Canonical Allele Identifier: CA213352

Gene: RHAG

Linked Data

• ClinVar Variation Id: 218295
• ClinVar RCV Id: RCV000202428 ; RCV001781607
• dbSNP Id: rs863225468
• MyVariant Identifiers: chr6:g.49587039A>G (hg19) ; chr6:g.49619326A>G (hg38)
• PubMed: PMID:1174702 ; PMID:2765409 ; PMID:2917122 ; PMID:6018468 ; PMID:13762977 ; PMID:15180870 ; PMID:18931342 ; PMID:21849667 ; PMID:22012326 ; PMID:23406318

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49619326A>G , CM000668.2:g.49619326A>G	GRCh38
NC_000006.11:g.49587039A>G , CM000668.1:g.49587039A>G	GRCh37
NC_000006.10:g.49694998A>G	NCBI36
NG_011704.1:g.22549T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371175.10:c.194T>C MANE Select	ENSP00000360217.4:p.Phe65Ser
ENST00000642530.1:n.469T>C
ENST00000646272.1:c.194T>C	ENSP00000494337.1:p.Phe65Ser
ENST00000646939.1:c.194T>C	ENSP00000494709.1:p.Phe65Ser
ENST00000646963.1:c.194T>C	ENSP00000495337.1:p.Phe65Ser
ENST00000229810.9:c.194T>C	ENSP00000229810.8:p.Phe65Ser
ENST00000371175.8:c.194T>C	ENSP00000360217.4:p.Phe65Ser
ENST00000618248.3:c.194T>C	ENSP00000482984.1:p.Phe65Ser
NM_000324.2:c.194T>C	NP_000315.2:p.Phe65Ser
XM_011514788.1:c.194T>C	XP_011513090.1:p.Phe65Ser
NM_000324.3:c.194T>C MANE Select	NP_000315.2:p.Phe65Ser