Canonical Allele Identifier: CA358782276

Gene: AGA

Linked Data

• dbSNP Id: rs750546930
• MyVariant Identifiers: chr4:g.178355600C>T (hg19) ; chr4:g.177434446C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434446C>T , CM000666.2:g.177434446C>T	GRCh38
NC_000004.11:g.178355600C>T , CM000666.1:g.178355600C>T	GRCh37
NC_000004.10:g.178592594C>T	NCBI36
NG_011845.2:g.13058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.742G>A MANE Select	ENSP00000264595.2:p.Asp248Asn
ENST00000264595.6:c.742G>A	ENSP00000264595.2:p.Asp248Asn
ENST00000502310.5:c.313G>A	ENSP00000423798.1:p.Asp105Asn
ENST00000506853.5:n.700G>A
ENST00000510635.1:c.408G>A
NM_000027.3:c.742G>A	NP_000018.2:p.Asp248Asn
NM_001171988.1:c.712G>A	NP_001165459.1:p.Asp238Asn
NR_033655.1:n.794G>A
XM_006714123.2:c.*36G>A	XP_006714186.1:n.*36G>A
XR_001741155.2:n.814G>A
NM_000027.4:c.742G>A MANE Select	NP_000018.2:p.Asp248Asn
NM_001171988.2:c.712G>A	NP_001165459.1:p.Asp238Asn
NR_033655.2:n.728G>A