Canonical Allele Identifier: CA96311707
Gene: GRXCR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1217523
ClinVar RCV Id: RCV001588196
dbSNP Id: rs148326320
gnomAD v2: 4-42965355-A-T
gnomAD v3: 4-42963338-A-T
gnomAD v4: 4-42963338-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42963338A>T , CM000666.2:g.42963338A>T GRCh38
NC_000004.11:g.42965355A>T , CM000666.1:g.42965355A>T GRCh37
NC_000004.10:g.42660112A>T NCBI36
NG_027718.1:g.75073A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.627+204A>T MANE Select ENSP00000382670.2:n.627+204A>T
ENST00000399770.2:c.627+204A>T ENSP00000382670.2:n.627+204A>T
NM_001080476.2:c.627+204A>T NP_001073945.1:n.627+204A>T
XM_011513691.1:c.264+204A>T XP_011511993.1:n.264+204A>T
NM_001080476.3:c.627+204A>T MANE Select NP_001073945.1:n.627+204A>T