Canonical Allele Identifier: CA213350

Gene: RHAG

Linked Data

• ClinVar Variation Id: 218296
• ClinVar RCV Id: RCV000202426
• dbSNP Id: rs863225469
• MyVariant Identifiers: chr6:g.49587051A>C (hg19) ; chr6:g.49619338A>C (hg38)
• PubMed: PMID:15180870 ; PMID:18931342

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49619338A>C , CM000668.2:g.49619338A>C	GRCh38
NC_000006.11:g.49587051A>C , CM000668.1:g.49587051A>C	GRCh37
NC_000006.10:g.49695010A>C	NCBI36
NG_011704.1:g.22537T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371175.10:c.182T>G MANE Select	ENSP00000360217.4:p.Ile61Arg
ENST00000642530.1:n.457T>G
ENST00000646272.1:c.182T>G	ENSP00000494337.1:p.Ile61Arg
ENST00000646939.1:c.182T>G	ENSP00000494709.1:p.Ile61Arg
ENST00000646963.1:c.182T>G	ENSP00000495337.1:p.Ile61Arg
ENST00000229810.9:c.182T>G	ENSP00000229810.8:p.Ile61Arg
ENST00000371175.8:c.182T>G	ENSP00000360217.4:p.Ile61Arg
ENST00000618248.3:c.182T>G	ENSP00000482984.1:p.Ile61Arg
NM_000324.2:c.182T>G	NP_000315.2:p.Ile61Arg
XM_011514788.1:c.182T>G	XP_011513090.1:p.Ile61Arg
NM_000324.3:c.182T>G MANE Select	NP_000315.2:p.Ile61Arg