Canonical Allele Identifier: CA182217

Gene: GRXCR1

Linked Data

• ClinVar Variation Id: 178379
• ClinVar RCV Id: RCV000155126 ; RCV000431947 ; RCV001147182
• dbSNP Id: rs113203706
• ExAC: 4:42895555 G / T
• gnomAD v2: 4-42895555-G-T
• gnomAD v3: 4-42893538-G-T
• gnomAD v4: 4-42893538-G-T
• MyVariant Identifiers: chr4:g.42895555G>T (hg19) ; chr4:g.42893538G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.42893538G>T , CM000666.2:g.42893538G>T	GRCh38
NC_000004.11:g.42895555G>T , CM000666.1:g.42895555G>T	GRCh37
NC_000004.10:g.42590312G>T	NCBI36
NG_027718.1:g.5273G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399770.3:c.272G>T MANE Select	ENSP00000382670.2:p.Gly91Val
ENST00000399770.2:c.272G>T	ENSP00000382670.2:p.Gly91Val
NM_001080476.2:c.272G>T	NP_001073945.1:p.Gly91Val
NM_001080476.3:c.272G>T MANE Select	NP_001073945.1:p.Gly91Val