Canonical Allele Identifier: CA364397505

Gene: RHAG

Linked Data

• ClinVar Variation Id: 438647
• ClinVar RCV Id: RCV000505587
• dbSNP Id: rs1554172605
• MyVariant Identifiers: chr6:g.49578797A>G (hg19) ; chr6:g.49611084A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49611084A>G , CM000668.2:g.49611084A>G	GRCh38
NC_000006.11:g.49578797A>G , CM000668.1:g.49578797A>G	GRCh37
NC_000006.10:g.49686756A>G	NCBI36
NG_011704.1:g.30791T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371175.10:c.1007T>C MANE Select	ENSP00000360217.4:p.Leu336Ser
ENST00000646272.1:c.1007T>C	ENSP00000494337.1:p.Leu336Ser
ENST00000646939.1:c.945+1313T>C	ENSP00000494709.1:n.945+1313T>C
ENST00000646963.1:c.1007T>C	ENSP00000495337.1:p.Leu336Ser
ENST00000229810.9:c.1007T>C	ENSP00000229810.8:p.Leu336Ser
ENST00000371175.8:c.1007T>C	ENSP00000360217.4:p.Leu336Ser
ENST00000618248.3:c.1007T>C	ENSP00000482984.1:p.Leu336Ser
NM_000324.2:c.1007T>C	NP_000315.2:p.Leu336Ser
NM_000324.3:c.1007T>C MANE Select	NP_000315.2:p.Leu336Ser