Canonical Allele Identifier: CA442332813

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360779T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439625T>A , CM000666.2:g.177439625T>A	GRCh38
NC_000004.11:g.178360779T>A , CM000666.1:g.178360779T>A	GRCh37
NC_000004.10:g.178597773T>A	NCBI36
NG_011845.2:g.7879A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.345A>T MANE Select	ENSP00000264595.2:p.Ala115=
ENST00000264595.6:c.345A>T	ENSP00000264595.2:p.Ala115=
ENST00000506853.5:n.379A>T
ENST00000510635.1:c.41A>T
ENST00000510955.5:n.315+648A>T
NM_000027.3:c.345A>T	NP_000018.2:p.Ala115=
NM_001171988.1:c.345A>T	NP_001165459.1:p.Ala115=
NR_033655.1:n.473A>T
XM_006714123.2:c.345A>T	XP_006714186.1:p.Ala115=
XR_001741155.2:n.439A>T
NM_000027.4:c.345A>T MANE Select	NP_000018.2:p.Ala115=
NM_001171988.2:c.345A>T	NP_001165459.1:p.Ala115=
NR_033655.2:n.407A>T