Canonical Allele Identifier: CA358785133

Gene: AGA

Linked Data

• ClinVar Variation Id: 1312698
• ClinVar RCV Id: RCV001763704
• dbSNP Id: rs2111028342
• MyVariant Identifiers: chr4:g.178363481A>G (hg19) ; chr4:g.177442327A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442327A>G , CM000666.2:g.177442327A>G	GRCh38
NC_000004.11:g.178363481A>G , CM000666.1:g.178363481A>G	GRCh37
NC_000004.10:g.178600475A>G	NCBI36
NG_011845.2:g.5177T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.49T>C MANE Select	ENSP00000264595.2:p.Cys17Arg
ENST00000264595.6:c.49T>C	ENSP00000264595.2:p.Cys17Arg
ENST00000506853.5:n.83T>C
ENST00000510955.5:n.83T>C
ENST00000511231.1:n.83T>C
NM_000027.3:c.49T>C	NP_000018.2:p.Cys17Arg
NM_001171988.1:c.49T>C	NP_001165459.1:p.Cys17Arg
NR_033655.1:n.177T>C
XM_006714123.2:c.49T>C	XP_006714186.1:p.Cys17Arg
XR_001741155.2:n.143T>C
NM_000027.4:c.49T>C MANE Select	NP_000018.2:p.Cys17Arg
NM_001171988.2:c.49T>C	NP_001165459.1:p.Cys17Arg
NR_033655.2:n.111T>C