Canonical Allele Identifier: CA439191501
Gene: GRXCR1 HGNC NCBI

Linked Data

dbSNP Id: rs1748157287
gnomAD v3: 4-42962927-G-T
gnomAD v4: 4-42962927-G-T
COSMIC: COSM302338
MyVariant Identifiers: chr4:g.42964944G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42962927G>T , CM000666.2:g.42962927G>T GRCh38
NC_000004.11:g.42964944G>T , CM000666.1:g.42964944G>T GRCh37
NC_000004.10:g.42659701G>T NCBI36
NG_027718.1:g.74662G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.420G>T MANE Select ENSP00000382670.2:p.Val140=
ENST00000399770.2:c.420G>T ENSP00000382670.2:p.Val140=
NM_001080476.2:c.420G>T NP_001073945.1:p.Val140=
XM_011513691.1:c.57G>T XP_011511993.1:p.Val19=
NM_001080476.3:c.420G>T MANE Select NP_001073945.1:p.Val140=