Canonical Allele Identifier: CA364403348

Gene: RHAG

Linked Data

• dbSNP Id: rs1282455295
• gnomAD v2: 6-49586989-T-G
• MyVariant Identifiers: chr6:g.49586989T>G (hg19) ; chr6:g.49619276T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49619276T>G , CM000668.2:g.49619276T>G	GRCh38
NC_000006.11:g.49586989T>G , CM000668.1:g.49586989T>G	GRCh37
NC_000006.10:g.49694948T>G	NCBI36
NG_011704.1:g.22599A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371175.10:c.244A>C MANE Select	ENSP00000360217.4:p.Ile82Leu
ENST00000642530.1:n.519A>C
ENST00000646272.1:c.244A>C	ENSP00000494337.1:p.Ile82Leu
ENST00000646939.1:c.244A>C	ENSP00000494709.1:p.Ile82Leu
ENST00000646963.1:c.244A>C	ENSP00000495337.1:p.Ile82Leu
ENST00000229810.9:c.244A>C	ENSP00000229810.8:p.Ile82Leu
ENST00000371175.8:c.244A>C	ENSP00000360217.4:p.Ile82Leu
ENST00000618248.3:c.244A>C	ENSP00000482984.1:p.Ile82Leu
NM_000324.2:c.244A>C	NP_000315.2:p.Ile82Leu
XM_011514788.1:c.244A>C	XP_011513090.1:p.Ile82Leu
NM_000324.3:c.244A>C MANE Select	NP_000315.2:p.Ile82Leu