Linked Data
dbSNP Id:
rs755760825
ExAC:
6:42141370 G / A
gnomAD v2:
6-42141370-G-A
gnomAD v4:
6-42173632-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42173632G>A , CM000668.2:g.42173632G>A | GRCh38 |
| NC_000006.11:g.42141370G>A , CM000668.1:g.42141370G>A | GRCh37 |
| NC_000006.10:g.42249348G>A | NCBI36 |
| NG_009938.1:g.23227G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703265.1:c.*254G>A (GUCA1ANB-GUCA1A) | ENSP00000515250.1:n.*254G>A | |
| ENST00000703266.1:c.*254G>A (GUCA1ANB-GUCA1A) | ENSP00000515251.1:n.*254G>A | |
| ENST00000703267.1:c.*517G>A (GUCA1ANB-GUCA1A) | ENSP00000515252.1:n.*517G>A | |
| ENST00000372958.2:c.19G>A (GUCA1A) MANE Select | ENSP00000362049.1:p.Gly7Arg | |
| ENST00000394237.6:c.*517G>A (CIMIP3) | ENSP00000377784.2:n.*517G>A | |
| ENST00000418175.6:c.*254G>A (CIMIP3) | ENSP00000388438.2:n.*254G>A | |
| ENST00000654459.1:c.19G>A (GUCA1A) | ENSP00000499539.1:p.Gly7Arg | |
| ENST00000659095.1:c.*254G>A (CIMIP3) | ENSP00000499714.1:n.*254G>A | |
| ENST00000053469.8:c.19G>A (GUCA1A) | ENSP00000053469.4:p.Gly7Arg | |
| ENST00000372958.1:c.19G>A (GUCA1A) | ENSP00000362049.1:p.Gly7Arg | |
| ENST00000394237.5:c.19G>A (GUCA1A) | ENSP00000377784.1:p.Gly7Arg | |
| ENST00000418175.5:c.19G>A (GUCA1A) | ENSP00000388438.1:p.Gly7Arg | |
| ENST00000541991.5:c.7G>A (GUCA1A) | ENSP00000437476.2:p.Gly3Arg | |
| NM_000409.3:c.19G>A (GUCA1A) | NP_000400.2:p.Gly7Arg | |
| XM_011514536.1:c.19G>A (GUCA1A) | XP_011512838.1:p.Gly7Arg | |
| XM_011514537.1:c.19G>A (GUCA1A) | XP_011512839.1:p.Gly7Arg | |
| XM_011514538.1:c.19G>A (GUCA1A) | XP_011512840.1:p.Gly7Arg | |
| XM_011514539.1:c.19G>A (GUCA1A) | XP_011512841.1:p.Gly7Arg | |
| NM_000409.4:c.19G>A (GUCA1A) | NP_000400.2:p.Gly7Arg | |
| NM_001319061.1:c.19G>A (GUCA1A) | NP_001305990.1:p.Gly7Arg | |
| NM_001319062.1:c.19G>A (GUCA1A) | NP_001305991.1:p.Gly7Arg | |
| XM_011514537.2:c.19G>A (GUCA1A) | XP_011512839.1:p.Gly7Arg | |
| NM_000409.5:c.19G>A (GUCA1A) | NP_000400.2:p.Gly7Arg | |
| NM_001319061.2:c.19G>A (GUCA1A) | NP_001305990.1:p.Gly7Arg | |
| NM_001319062.2:c.19G>A (GUCA1A) | NP_001305991.1:p.Gly7Arg | |
| NM_001384910.1:c.19G>A (GUCA1A) MANE Select | NP_001371839.1:p.Gly7Arg |