Canonical Allele Identifier: CA358782911

Gene: AGA

Linked Data

• ClinVar Variation Id: 900309
• ClinVar RCV Id: RCV001145409
• dbSNP Id: rs1187962299
• MyVariant Identifiers: chr4:g.178358646A>G (hg19) ; chr4:g.177437492A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437492A>G , CM000666.2:g.177437492A>G	GRCh38
NC_000004.11:g.178358646A>G , CM000666.1:g.178358646A>G	GRCh37
NC_000004.10:g.178595640A>G	NCBI36
NG_011845.2:g.10012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.535T>C MANE Select	ENSP00000264595.2:p.Cys179Arg
ENST00000264595.6:c.535T>C	ENSP00000264595.2:p.Cys179Arg
ENST00000502310.5:c.190T>C	ENSP00000423798.1:p.Cys64Arg
ENST00000506853.5:n.569T>C
ENST00000510635.1:c.231T>C
ENST00000510955.5:n.456T>C
NM_000027.3:c.535T>C	NP_000018.2:p.Cys179Arg
NM_001171988.1:c.535T>C	NP_001165459.1:p.Cys179Arg
NR_033655.1:n.663T>C
XM_006714123.2:c.535T>C	XP_006714186.1:p.Cys179Arg
XR_001741155.2:n.629T>C
NM_000027.4:c.535T>C MANE Select	NP_000018.2:p.Cys179Arg
NM_001171988.2:c.535T>C	NP_001165459.1:p.Cys179Arg
NR_033655.2:n.597T>C