Canonical Allele Identifier: CA442332791

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360749T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439595T>G , CM000666.2:g.177439595T>G	GRCh38
NC_000004.11:g.178360749T>G , CM000666.1:g.178360749T>G	GRCh37
NC_000004.10:g.178597743T>G	NCBI36
NG_011845.2:g.7909A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.375A>C MANE Select	ENSP00000264595.2:p.Thr125=
ENST00000264595.6:c.375A>C	ENSP00000264595.2:p.Thr125=
ENST00000502310.5:c.30A>C	ENSP00000423798.1:p.Thr10=
ENST00000506853.5:n.409A>C
ENST00000510635.1:c.71A>C
ENST00000510955.5:n.315+678A>C
NM_000027.3:c.375A>C	NP_000018.2:p.Thr125=
NM_001171988.1:c.375A>C	NP_001165459.1:p.Thr125=
NR_033655.1:n.503A>C
XM_006714123.2:c.375A>C	XP_006714186.1:p.Thr125=
XR_001741155.2:n.469A>C
NM_000027.4:c.375A>C MANE Select	NP_000018.2:p.Thr125=
NM_001171988.2:c.375A>C	NP_001165459.1:p.Thr125=
NR_033655.2:n.437A>C