UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
304307
ClinVar RCV Id:
RCV000261986
RCV000268116
RCV000291530
RCV000321836
RCV000323175
RCV000358001
RCV000381254
RCV002510843
dbSNP Id:
rs149777109
gnomAD v2:
11-31807812-G-A
gnomAD v3:
11-31786264-G-A
gnomAD v4:
11-31786264-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.31786264G>A , CM000673.2:g.31786264G>A | GRCh38 |
| NC_000011.9:g.31807812G>A , CM000673.1:g.31807812G>A | GRCh37 |
| NC_000011.8:g.31764388G>A | NCBI36 |
| NG_008679.1:g.36698C>T , LRG_720:g.36698C>T | |
| NG_034086.1:g.281536G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419022.6:c.*3670C>T (PAX6) | ENSP00000404100.1:n.*3670C>T | |
| ENST00000606377.7:c.*3670C>T (PAX6) | ENSP00000480026.1:n.*3670C>T | |
| ENST00000638914.3:c.*3670C>T (PAX6) | ENSP00000492315.2:n.*3670C>T | |
| ENST00000639386.2:c.*3670C>T (PAX6) | ENSP00000492658.1:n.*3670C>T | |
| ENST00000640961.2:c.*2740G>A (ELP4) MANE Select | ENSP00000492152.1:n.*2740G>A | |
| ENST00000643871.1:c.*3670C>T (PAX6) | ENSP00000495109.1:n.*3670C>T | |
| ENST00000419022.5:c.*3670C>T (PAX6) | ENSP00000404100.1:n.*3670C>T | |
| ENST00000606377.5:c.*3670C>T (PAX6) | ENSP00000480026.1:n.*3670C>T | |
| NM_000280.4:c.*3670C>T (PAX6) | NP_000271.1:n.*3670C>T | |
| NM_001127612.1:c.*3670C>T (PAX6) | NP_001121084.1:n.*3670C>T | |
| NM_001258462.1:c.*3670C>T (PAX6) | NP_001245391.1:n.*3670C>T | |
| NM_001258463.1:c.*3670C>T (PAX6) | NP_001245392.1:n.*3670C>T | |
| NM_001258464.1:c.*3670C>T (PAX6) | NP_001245393.1:n.*3670C>T | |
| NM_001258465.1:c.*3670C>T (PAX6) | NP_001245394.1:n.*3670C>T | |
| NM_001310158.1:c.*3670C>T (PAX6) | NP_001297087.1:n.*3670C>T | |
| NM_001310160.1:c.*3670C>T (PAX6) | NP_001297089.1:n.*3670C>T | |
| NM_001310161.1:c.*3670C>T (PAX6) | NP_001297090.1:n.*3670C>T | |
| NM_001604.5:c.*3670C>T (PAX6) | NP_001595.2:n.*3670C>T | |
| NM_019040.5:c.*2740G>A (ELP4) MANE Select | NP_061913.3:n.*2740G>A | |
| NM_001127612.2:c.*3670C>T (PAX6) | NP_001121084.1:n.*3670C>T | |
| NM_001258462.2:c.*3670C>T (PAX6) | NP_001245391.1:n.*3670C>T | |
| NM_001258465.2:c.*3670C>T (PAX6) | NP_001245394.1:n.*3670C>T | |
| NM_001288725.2:c.*2726G>A (ELP4) | NP_001275654.1:n.*2726G>A | |
| NM_001288726.2:c.*2835G>A (ELP4) | NP_001275655.1:n.*2835G>A | |
| NM_001310161.2:c.*3670C>T (PAX6) | NP_001297090.1:n.*3670C>T | |
| NM_001368887.1:c.*3670C>T (PAX6) | NP_001355816.1:n.*3670C>T | |
| NM_001368888.1:c.*3670C>T (PAX6) | NP_001355817.1:n.*3670C>T | |
| NM_001368889.1:c.*3670C>T (PAX6) | NP_001355818.1:n.*3670C>T | |
| NM_001368890.1:c.*3670C>T (PAX6) | NP_001355819.1:n.*3670C>T | |
| NM_001368891.1:c.*3670C>T (PAX6) | NP_001355820.1:n.*3670C>T | |
| NM_001368892.1:c.*3670C>T (PAX6) | NP_001355821.1:n.*3670C>T | |
| NM_001368893.1:c.*3670C>T (PAX6) | NP_001355822.1:n.*3670C>T | |
| NM_001368894.1:c.*3670C>T (PAX6) | NP_001355823.1:n.*3670C>T | |
| NM_001368899.1:c.*3670C>T (PAX6) | NP_001355828.1:n.*3670C>T | |
| NM_001368900.1:c.*3670C>T (PAX6) | NP_001355829.1:n.*3670C>T | |
| NM_001368901.1:c.*3670C>T (PAX6) | NP_001355830.1:n.*3670C>T | |
| NM_001368902.1:c.*3670C>T (PAX6) | NP_001355831.1:n.*3670C>T | |
| NM_001368903.1:c.*3670C>T (PAX6) | NP_001355832.1:n.*3670C>T | |
| NM_001368904.1:c.*3670C>T (PAX6) | NP_001355833.1:n.*3670C>T | |
| NM_001368905.1:c.*3670C>T (PAX6) | NP_001355834.1:n.*3670C>T | |
| NM_001368906.1:c.*3670C>T (PAX6) | NP_001355835.1:n.*3670C>T | |
| NM_001368907.1:c.*3670C>T (PAX6) | NP_001355836.1:n.*3670C>T | |
| NM_001368908.1:c.*3670C>T (PAX6) | NP_001355837.1:n.*3670C>T | |
| NM_001368909.1:c.*3670C>T (PAX6) | NP_001355838.1:n.*3670C>T | |
| NM_001368910.1:c.*3670C>T (PAX6) | NP_001355839.1:n.*3670C>T | |
| NM_001368911.1:c.*3366C>T (PAX6) | NP_001355840.1:n.*3366C>T | |
| NM_001368912.1:c.*3366C>T (PAX6) | NP_001355841.1:n.*3366C>T | |
| NM_001368913.1:c.*3366C>T (PAX6) | NP_001355842.1:n.*3366C>T | |
| NM_001368914.1:c.*3366C>T (PAX6) | NP_001355843.1:n.*3366C>T | |
| NM_001368915.1:c.*3366C>T (PAX6) | NP_001355844.1:n.*3366C>T | |
| NM_001368916.1:c.*3366C>T (PAX6) | NP_001355845.1:n.*3366C>T | |
| NM_001368917.1:c.*3366C>T (PAX6) | NP_001355846.1:n.*3366C>T | |
| NM_001368918.1:c.*3670C>T (PAX6) | NP_001355847.1:n.*3670C>T | |
| NM_001368919.1:c.*3670C>T (PAX6) | NP_001355848.1:n.*3670C>T | |
| NM_001368920.1:c.*3670C>T (PAX6) | NP_001355849.1:n.*3670C>T | |
| NM_001368921.1:c.*3366C>T (PAX6) | NP_001355850.1:n.*3366C>T | |
| NM_001368922.1:c.*3670C>T (PAX6) | NP_001355851.1:n.*3670C>T | |
| NM_001368923.1:c.*3670C>T (PAX6) | NP_001355852.1:n.*3670C>T | |
| NM_001368924.1:c.*3670C>T (PAX6) | NP_001355853.1:n.*3670C>T | |
| NM_001368925.1:c.*3670C>T (PAX6) | NP_001355854.1:n.*3670C>T | |
| NM_001368926.1:c.*3670C>T (PAX6) | NP_001355855.1:n.*3670C>T | |
| NM_001368927.1:c.*3670C>T (PAX6) | NP_001355856.1:n.*3670C>T | |
| NM_001368928.1:c.*3670C>T (PAX6) | NP_001355857.1:n.*3670C>T | |
| NM_001368929.1:c.*3366C>T (PAX6) | NP_001355858.1:n.*3366C>T | |
| NM_001368930.1:c.*3670C>T (PAX6) | NP_001355859.1:n.*3670C>T | |
| NR_160916.1:n.5169C>T (PAX6) | ||
| NR_160917.1:n.5325C>T (PAX6) |