Canonical Allele Identifier: CA133097

Gene: GRXCR1

Linked Data

• ClinVar Variation Id: 43888
• ClinVar RCV Id: RCV000036857 ; RCV000339048 ; RCV002054617
• dbSNP Id: rs10213360
• ExAC: 4:42965159 A / C
• gnomAD v2: 4-42965159-A-C
• gnomAD v3: 4-42963142-A-C
• gnomAD v4: 4-42963142-A-C
• MyVariant Identifiers: chr4:g.42965159A>C (hg19) ; chr4:g.42963142A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.42963142A>C , CM000666.2:g.42963142A>C	GRCh38
NC_000004.11:g.42965159A>C , CM000666.1:g.42965159A>C	GRCh37
NC_000004.10:g.42659916A>C	NCBI36
NG_027718.1:g.74877A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399770.3:c.627+8A>C MANE Select	ENSP00000382670.2:n.627+8A>C
ENST00000399770.2:c.627+8A>C	ENSP00000382670.2:n.627+8A>C
NM_001080476.2:c.627+8A>C	NP_001073945.1:n.627+8A>C
XM_011513691.1:c.264+8A>C	XP_011511993.1:n.264+8A>C
NM_001080476.3:c.627+8A>C MANE Select	NP_001073945.1:n.627+8A>C