Canonical Allele Identifier: CA356792415
Gene: GRXCR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2214702
ClinVar RCV Id: RCV002660903
dbSNP Id: rs1193333756
gnomAD v2: 4-42965065-T-C
gnomAD v3: 4-42963048-T-C
gnomAD v4: 4-42963048-T-C
MyVariant Identifiers: chr4:g.42965065T>C (hg19) chr4:g.42963048T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42963048T>C , CM000666.2:g.42963048T>C GRCh38
NC_000004.11:g.42965065T>C , CM000666.1:g.42965065T>C GRCh37
NC_000004.10:g.42659822T>C NCBI36
NG_027718.1:g.74783T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.541T>C MANE Select ENSP00000382670.2:p.Tyr181His
ENST00000399770.2:c.541T>C ENSP00000382670.2:p.Tyr181His
NM_001080476.2:c.541T>C NP_001073945.1:p.Tyr181His
XM_011513691.1:c.178T>C XP_011511993.1:p.Tyr60His
NM_001080476.3:c.541T>C MANE Select NP_001073945.1:p.Tyr181His
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