Canonical Allele Identifier: CA442332861
Gene: AGA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.178360842G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439688G>A , CM000666.2:g.177439688G>A GRCh38
NC_000004.11:g.178360842G>A , CM000666.1:g.178360842G>A GRCh37
NC_000004.10:g.178597836G>A NCBI36
NG_011845.2:g.7816C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.282C>T MANE Select ENSP00000264595.2:p.Gly94=
ENST00000264595.6:c.282C>T ENSP00000264595.2:p.Gly94=
ENST00000506853.5:n.316C>T
ENST00000510955.5:n.315+585C>T
NM_000027.3:c.282C>T NP_000018.2:p.Gly94=
NM_001171988.1:c.282C>T NP_001165459.1:p.Gly94=
NR_033655.1:n.410C>T
XM_006714123.2:c.282C>T XP_006714186.1:p.Gly94=
XR_001741155.2:n.376C>T
NM_000027.4:c.282C>T MANE Select NP_000018.2:p.Gly94=
NM_001171988.2:c.282C>T NP_001165459.1:p.Gly94=
NR_033655.2:n.344C>T