Canonical Allele Identifier: CA442332301

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355589T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434435T>G , CM000666.2:g.177434435T>G	GRCh38
NC_000004.11:g.178355589T>G , CM000666.1:g.178355589T>G	GRCh37
NC_000004.10:g.178592583T>G	NCBI36
NG_011845.2:g.13069A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.753A>C MANE Select	ENSP00000264595.2:p.Ala251=
ENST00000264595.6:c.753A>C	ENSP00000264595.2:p.Ala251=
ENST00000502310.5:c.324A>C	ENSP00000423798.1:p.Ala108=
ENST00000506853.5:n.711A>C
NM_000027.3:c.753A>C	NP_000018.2:p.Ala251=
NM_001171988.1:c.723A>C	NP_001165459.1:p.Ala241=
NR_033655.1:n.805A>C
XM_006714123.2:c.*47A>C	XP_006714186.1:n.*47A>C
XR_001741155.2:n.825A>C
NM_000027.4:c.753A>C MANE Select	NP_000018.2:p.Ala251=
NM_001171988.2:c.723A>C	NP_001165459.1:p.Ala241=
NR_033655.2:n.739A>C