Canonical Allele Identifier: CA442332825

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360791A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439637A>T , CM000666.2:g.177439637A>T	GRCh38
NC_000004.11:g.178360791A>T , CM000666.1:g.178360791A>T	GRCh37
NC_000004.10:g.178597785A>T	NCBI36
NG_011845.2:g.7867T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.333T>A MANE Select	ENSP00000264595.2:p.Ala111=
ENST00000264595.6:c.333T>A	ENSP00000264595.2:p.Ala111=
ENST00000506853.5:n.367T>A
ENST00000510635.1:c.29T>A
ENST00000510955.5:n.315+636T>A
NM_000027.3:c.333T>A	NP_000018.2:p.Ala111=
NM_001171988.1:c.333T>A	NP_001165459.1:p.Ala111=
NR_033655.1:n.461T>A
XM_006714123.2:c.333T>A	XP_006714186.1:p.Ala111=
XR_001741155.2:n.427T>A
NM_000027.4:c.333T>A MANE Select	NP_000018.2:p.Ala111=
NM_001171988.2:c.333T>A	NP_001165459.1:p.Ala111=
NR_033655.2:n.395T>A