Canonical Allele Identifier: CA96311700
Gene: GRXCR1 HGNC NCBI

Linked Data

dbSNP Id: rs977937167
gnomAD v2: 4-42965275-C-T
gnomAD v3: 4-42963258-C-T
gnomAD v4: 4-42963258-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42963258C>T , CM000666.2:g.42963258C>T GRCh38
NC_000004.11:g.42965275C>T , CM000666.1:g.42965275C>T GRCh37
NC_000004.10:g.42660032C>T NCBI36
NG_027718.1:g.74993C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.627+124C>T MANE Select ENSP00000382670.2:n.627+124C>T
ENST00000399770.2:c.627+124C>T ENSP00000382670.2:n.627+124C>T
NM_001080476.2:c.627+124C>T NP_001073945.1:n.627+124C>T
XM_011513691.1:c.264+124C>T XP_011511993.1:n.264+124C>T
NM_001080476.3:c.627+124C>T MANE Select NP_001073945.1:n.627+124C>T