Canonical Allele Identifier: CA442332820
Gene: AGA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.178360785A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439631A>T , CM000666.2:g.177439631A>T GRCh38
NC_000004.11:g.178360785A>T , CM000666.1:g.178360785A>T GRCh37
NC_000004.10:g.178597779A>T NCBI36
NG_011845.2:g.7873T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.339T>A MANE Select ENSP00000264595.2:p.Gly113=
ENST00000264595.6:c.339T>A ENSP00000264595.2:p.Gly113=
ENST00000506853.5:n.373T>A
ENST00000510635.1:c.35T>A
ENST00000510955.5:n.315+642T>A
NM_000027.3:c.339T>A NP_000018.2:p.Gly113=
NM_001171988.1:c.339T>A NP_001165459.1:p.Gly113=
NR_033655.1:n.467T>A
XM_006714123.2:c.339T>A XP_006714186.1:p.Gly113=
XR_001741155.2:n.433T>A
NM_000027.4:c.339T>A MANE Select NP_000018.2:p.Gly113=
NM_001171988.2:c.339T>A NP_001165459.1:p.Gly113=
NR_033655.2:n.401T>A