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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152143637T>G , CM000668.2:g.152143637T>G | GRCh38 |
| NC_000006.11:g.152464772T>G , CM000668.1:g.152464772T>G | GRCh37 |
| NC_000006.10:g.152506465T>G | NCBI36 |
| NG_012855.1:g.498763A>C | |
| NG_012855.2:g.498763A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.1639A>C MANE Plus Clinical | ENSP00000346701.4:p.Ser547Arg | |
| ENST00000367255.10:c.25105A>C MANE Select | ENSP00000356224.5:p.Ser8369Arg | |
| ENST00000423061.6:c.24961A>C | ENSP00000396024.1:p.Ser8321Arg | |
| ENST00000672154.1:c.507A>C | ||
| ENST00000672169.1:c.840A>C | ||
| ENST00000673173.1:c.891-3476A>C | ||
| ENST00000673451.1:c.877A>C | ENSP00000500189.1:p.Ser293Arg | |
| ENST00000341594.9:c.23890A>C | ENSP00000341887.6:p.Ser7964Arg | |
| ENST00000347037.9:n.1853A>C | ||
| ENST00000354674.4:c.1639A>C | ENSP00000346701.4:p.Ser547Arg | |
| ENST00000367251.7:c.3940A>C | ENSP00000356220.3:p.Ser1314Arg | |
| ENST00000367255.9:c.25105A>C | ENSP00000356224.5:p.Ser8369Arg | |
| ENST00000367256.9:n.8797A>C | ||
| ENST00000367257.8:c.3043A>C | ENSP00000356226.4:p.Ser1015Arg | |
| ENST00000409694.6:n.8689A>C | ||
| ENST00000423061.5:c.24961A>C | ENSP00000396024.1:p.Ser8321Arg | |
| ENST00000460912.6:n.1719A>C | ||
| ENST00000478916.5:n.4127A>C | ||
| ENST00000536990.5:n.1942A>C | ||
| ENST00000539504.5:c.1570A>C | ENSP00000441052.1:p.Ser524Arg | |
| NM_033071.3:c.24961A>C | NP_149062.1:p.Ser8321Arg | |
| NM_182961.3:c.25105A>C | NP_892006.3:p.Ser8369Arg | |
| XM_006715407.1:c.25210A>C | XP_006715470.1:p.Ser8404Arg | |
| XM_006715408.1:c.25198A>C | XP_006715471.1:p.Ser8400Arg | |
| XM_006715409.1:c.25189A>C | XP_006715472.1:p.Ser8397Arg | |
| XM_006715410.1:c.25210A>C | XP_006715473.1:p.Ser8404Arg | |
| XM_006715411.1:c.25159A>C | XP_006715474.1:p.Ser8387Arg | |
| XM_006715412.1:c.25195A>C | XP_006715475.1:p.Ser8399Arg | |
| XM_006715413.1:c.25141A>C | XP_006715476.1:p.Ser8381Arg | |
| XM_006715414.1:c.25138A>C | XP_006715477.1:p.Ser8380Arg | |
| XM_006715415.1:c.25141A>C | XP_006715478.1:p.Ser8381Arg | |
| XM_006715416.1:c.25126A>C | XP_006715479.1:p.Ser8376Arg | |
| XM_006715417.1:c.25069A>C | XP_006715480.1:p.Ser8357Arg | |
| XM_006715420.1:c.25057A>C | XP_006715483.1:p.Ser8353Arg | |
| XM_006715421.1:c.25054A>C | XP_006715484.1:p.Ser8352Arg | |
| XM_006715422.1:c.25051A>C | XP_006715485.1:p.Ser8351Arg | |
| XM_006715423.1:c.25210A>C | XP_006715486.1:p.Ser8404Arg | |
| XM_006715424.1:c.25210A>C | XP_006715487.1:p.Ser8404Arg | |
| XM_006715425.1:c.25141A>C | XP_006715488.1:p.Ser8381Arg | |
| XM_011535641.1:c.25207A>C | XP_011533943.1:p.Ser8403Arg | |
| XM_011535642.1:c.25195A>C | XP_011533944.1:p.Ser8399Arg | |
| XM_011535643.1:c.25045A>C | XP_011533945.1:p.Ser8349Arg | |
| XM_011535644.1:c.23485A>C | XP_011533946.1:p.Ser7829Arg | |
| XM_011535645.1:c.22978A>C | XP_011533947.1:p.Ser7660Arg | |
| XM_011535647.1:c.18445A>C | XP_011533949.1:p.Ser6149Arg | |
| NM_001347701.1:c.1711A>C | NP_001334630.1:p.Ser571Arg | |
| NM_001347702.1:c.1639A>C | NP_001334631.1:p.Ser547Arg | |
| XM_006715408.2:c.25198A>C | XP_006715471.1:p.Ser8400Arg | |
| XM_006715410.2:c.25210A>C | XP_006715473.1:p.Ser8404Arg | |
| XM_006715412.2:c.25195A>C | XP_006715475.1:p.Ser8399Arg | |
| XM_006715413.2:c.25141A>C | XP_006715476.1:p.Ser8381Arg | |
| XM_006715415.2:c.25141A>C | XP_006715478.1:p.Ser8381Arg | |
| XM_006715416.2:c.25126A>C | XP_006715479.1:p.Ser8376Arg | |
| XM_006715417.2:c.25069A>C | XP_006715480.1:p.Ser8357Arg | |
| XM_006715420.2:c.25057A>C | XP_006715483.1:p.Ser8353Arg | |
| XM_006715421.2:c.25054A>C | XP_006715484.1:p.Ser8352Arg | |
| XM_006715423.2:c.25210A>C | XP_006715486.1:p.Ser8404Arg | |
| XM_006715424.2:c.25210A>C | XP_006715487.1:p.Ser8404Arg | |
| XM_006715425.2:c.25141A>C | XP_006715488.1:p.Ser8381Arg | |
| XM_011535641.2:c.25207A>C | XP_011533943.1:p.Ser8403Arg | |
| XM_011535642.2:c.25195A>C | XP_011533944.1:p.Ser8399Arg | |
| XM_011535645.2:c.22978A>C | XP_011533947.1:p.Ser7660Arg | |
| XM_017010608.1:c.25210A>C | XP_016866097.1:p.Ser8404Arg | |
| XM_017010609.1:c.25210A>C | XP_016866098.1:p.Ser8404Arg | |
| XM_017010610.1:c.25189A>C | XP_016866099.1:p.Ser8397Arg | |
| XM_017010611.2:c.25183A>C | XP_016866100.1:p.Ser8395Arg | |
| XM_017010612.1:c.25132A>C | XP_016866101.1:p.Ser8378Arg | |
| XM_017010613.1:c.25138A>C | XP_016866102.1:p.Ser8380Arg | |
| XM_017010614.1:c.25054A>C | XP_016866103.1:p.Ser8352Arg | |
| XM_017010615.1:c.24985A>C | XP_016866104.1:p.Ser8329Arg | |
| XM_017010616.1:c.25141A>C | XP_016866105.1:p.Ser8381Arg | |
| XM_017010617.1:c.25138A>C | XP_016866106.1:p.Ser8380Arg | |
| XM_017010618.1:c.25126A>C | XP_016866107.1:p.Ser8376Arg | |
| XM_017010619.1:c.23485A>C | XP_016866108.1:p.Ser7829Arg | |
| NM_182961.4:c.25105A>C MANE Select | NP_892006.3:p.Ser8369Arg | |
| NM_001347701.2:c.1711A>C | NP_001334630.1:p.Ser571Arg | |
| NM_001347702.2:c.1639A>C MANE Plus Clinical | NP_001334631.1:p.Ser547Arg | |
| NM_033071.5:c.24961A>C | NP_149062.2:p.Ser8321Arg |