Canonical Allele Identifier: CA2904403
Gene: GRXCR1 HGNC NCBI

Linked Data

dbSNP Id: rs142351714
gnomAD v2: 4-42964964-G-A
gnomAD v3: 4-42962947-G-A
gnomAD v4: 4-42962947-G-A
COSMIC: COSM447877

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42962947G>A , CM000666.2:g.42962947G>A GRCh38
NC_000004.11:g.42964964G>A , CM000666.1:g.42964964G>A GRCh37
NC_000004.10:g.42659721G>A NCBI36
NG_027718.1:g.74682G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.440G>A MANE Select ENSP00000382670.2:p.Arg147His
ENST00000399770.2:c.440G>A ENSP00000382670.2:p.Arg147His
NM_001080476.2:c.440G>A NP_001073945.1:p.Arg147His
XM_011513691.1:c.77G>A XP_011511993.1:p.Arg26His
NM_001080476.3:c.440G>A MANE Select NP_001073945.1:p.Arg147His