Canonical Allele Identifier: CA356792074
Gene: GRXCR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2504192
ClinVar RCV Id: RCV003232981
gnomAD v4: 4-43030533-C-A
MyVariant Identifiers: chr4:g.43032550C>A (hg19) chr4:g.43030533C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.43030533C>A , CM000666.2:g.43030533C>A GRCh38
NC_000004.11:g.43032550C>A , CM000666.1:g.43032550C>A GRCh37
NC_000004.10:g.42727307C>A NCBI36
NG_027718.1:g.142268C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000399770.3:c.866C>A MANE Select ENSP00000382670.2:p.Ala289Asp
ENST00000399770.2:c.866C>A ENSP00000382670.2:p.Ala289Asp
NM_001080476.2:c.866C>A NP_001073945.1:p.Ala289Asp
XM_011513691.1:c.503C>A XP_011511993.1:p.Ala168Asp
NM_001080476.3:c.866C>A MANE Select NP_001073945.1:p.Ala289Asp
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