Canonical Allele Identifier: CA96311705
Gene: GRXCR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1239914
ClinVar RCV Id: RCV001637878
dbSNP Id: rs71610038
gnomAD v2: 4-42965326-G-A
gnomAD v3: 4-42963309-G-A
gnomAD v4: 4-42963309-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42963309G>A , CM000666.2:g.42963309G>A GRCh38
NC_000004.11:g.42965326G>A , CM000666.1:g.42965326G>A GRCh37
NC_000004.10:g.42660083G>A NCBI36
NG_027718.1:g.75044G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.627+175G>A MANE Select ENSP00000382670.2:n.627+175G>A
ENST00000399770.2:c.627+175G>A ENSP00000382670.2:n.627+175G>A
NM_001080476.2:c.627+175G>A NP_001073945.1:n.627+175G>A
XM_011513691.1:c.264+175G>A XP_011511993.1:n.264+175G>A
NM_001080476.3:c.627+175G>A MANE Select NP_001073945.1:n.627+175G>A