Canonical Allele Identifier: CA356792206
Gene: GRXCR1 HGNC NCBI

Linked Data

dbSNP Id: rs1442423972
gnomAD v2: 4-42964966-G-A
gnomAD v4: 4-42962949-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42962949G>A , CM000666.2:g.42962949G>A GRCh38
NC_000004.11:g.42964966G>A , CM000666.1:g.42964966G>A GRCh37
NC_000004.10:g.42659723G>A NCBI36
NG_027718.1:g.74684G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.442G>A MANE Select ENSP00000382670.2:p.Val148Met
ENST00000399770.2:c.442G>A ENSP00000382670.2:p.Val148Met
NM_001080476.2:c.442G>A NP_001073945.1:p.Val148Met
XM_011513691.1:c.79G>A XP_011511993.1:p.Val27Met
NM_001080476.3:c.442G>A MANE Select NP_001073945.1:p.Val148Met