Canonical Allele Identifier: CA442332307

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355601A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434447A>T , CM000666.2:g.177434447A>T	GRCh38
NC_000004.11:g.178355601A>T , CM000666.1:g.178355601A>T	GRCh37
NC_000004.10:g.178592595A>T	NCBI36
NG_011845.2:g.13057T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.741T>A MANE Select	ENSP00000264595.2:p.Ala247=
ENST00000264595.6:c.741T>A	ENSP00000264595.2:p.Ala247=
ENST00000502310.5:c.312T>A	ENSP00000423798.1:p.Ala104=
ENST00000506853.5:n.699T>A
ENST00000510635.1:c.407T>A
NM_000027.3:c.741T>A	NP_000018.2:p.Ala247=
NM_001171988.1:c.711T>A	NP_001165459.1:p.Ala237=
NR_033655.1:n.793T>A
XM_006714123.2:c.*35T>A	XP_006714186.1:n.*35T>A
XR_001741155.2:n.813T>A
NM_000027.4:c.741T>A MANE Select	NP_000018.2:p.Ala247=
NM_001171988.2:c.711T>A	NP_001165459.1:p.Ala237=
NR_033655.2:n.727T>A