Canonical Allele Identifier: CA2904429
Gene: GRXCR1 HGNC NCBI

Linked Data

dbSNP Id: rs781151937
gnomAD v2: 4-42965051-C-T
gnomAD v4: 4-42963034-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42963034C>T , CM000666.2:g.42963034C>T GRCh38
NC_000004.11:g.42965051C>T , CM000666.1:g.42965051C>T GRCh37
NC_000004.10:g.42659808C>T NCBI36
NG_027718.1:g.74769C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.527C>T MANE Select ENSP00000382670.2:p.Ala176Val
ENST00000399770.2:c.527C>T ENSP00000382670.2:p.Ala176Val
NM_001080476.2:c.527C>T NP_001073945.1:p.Ala176Val
XM_011513691.1:c.164C>T XP_011511993.1:p.Ala55Val
NM_001080476.3:c.527C>T MANE Select NP_001073945.1:p.Ala176Val