Canonical Allele Identifier: CA2904411
Gene: GRXCR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2444002
ClinVar RCV Id: RCV003152656
dbSNP Id: rs770874273
gnomAD v2: 4-42964981-T-G
gnomAD v3: 4-42962964-T-G
gnomAD v4: 4-42962964-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42962964T>G , CM000666.2:g.42962964T>G GRCh38
NC_000004.11:g.42964981T>G , CM000666.1:g.42964981T>G GRCh37
NC_000004.10:g.42659738T>G NCBI36
NG_027718.1:g.74699T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.457T>G MANE Select ENSP00000382670.2:p.Phe153Val
ENST00000399770.2:c.457T>G ENSP00000382670.2:p.Phe153Val
NM_001080476.2:c.457T>G NP_001073945.1:p.Phe153Val
XM_011513691.1:c.94T>G XP_011511993.1:p.Phe32Val
NM_001080476.3:c.457T>G MANE Select NP_001073945.1:p.Phe153Val