Canonical Allele Identifier: CA2904407

Gene: GRXCR1

Linked Data

• ClinVar Variation Id: 1254509
• ClinVar RCV Id: RCV001665434
• dbSNP Id: rs200231391
• ExAC: 4:42964973 G / A
• gnomAD v2: 4-42964973-G-A
• gnomAD v3: 4-42962956-G-A
• gnomAD v4: 4-42962956-G-A
• MyVariant Identifiers: chr4:g.42964973G>A (hg19) ; chr4:g.42962956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.42962956G>A , CM000666.2:g.42962956G>A	GRCh38
NC_000004.11:g.42964973G>A , CM000666.1:g.42964973G>A	GRCh37
NC_000004.10:g.42659730G>A	NCBI36
NG_027718.1:g.74691G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399770.3:c.449G>A MANE Select	ENSP00000382670.2:p.Arg150Gln
ENST00000399770.2:c.449G>A	ENSP00000382670.2:p.Arg150Gln
NM_001080476.2:c.449G>A	NP_001073945.1:p.Arg150Gln
XM_011513691.1:c.86G>A	XP_011511993.1:p.Arg29Gln
NM_001080476.3:c.449G>A MANE Select	NP_001073945.1:p.Arg150Gln