Canonical Allele Identifier: CA10621111
Gene: GRXCR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 348821
ClinVar RCV Id: RCV003148732
dbSNP Id: rs886059417
gnomAD v2: 4-42965075-A-T
gnomAD v4: 4-42963058-A-T
MyVariant Identifiers: chr4:g.42965075A>T (hg19) chr4:g.42963058A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42963058A>T , CM000666.2:g.42963058A>T GRCh38
NC_000004.11:g.42965075A>T , CM000666.1:g.42965075A>T GRCh37
NC_000004.10:g.42659832A>T NCBI36
NG_027718.1:g.74793A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000399770.3:c.551A>T MANE Select ENSP00000382670.2:p.Glu184Val
ENST00000399770.2:c.551A>T ENSP00000382670.2:p.Glu184Val
NM_001080476.2:c.551A>T NP_001073945.1:p.Glu184Val
XM_011513691.1:c.188A>T XP_011511993.1:p.Glu63Val
NM_001080476.3:c.551A>T MANE Select NP_001073945.1:p.Glu184Val
Search 100 bp 5'
Search 100 bp 3'