Canonical Allele Identifier: CA442333033

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178361575T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440421T>G , CM000666.2:g.177440421T>G	GRCh38
NC_000004.11:g.178361575T>G , CM000666.1:g.178361575T>G	GRCh37
NC_000004.10:g.178598569T>G	NCBI36
NG_011845.2:g.7083A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.133A>C MANE Select	ENSP00000264595.2:p.Arg45=
ENST00000264595.6:c.133A>C	ENSP00000264595.2:p.Arg45=
ENST00000506853.5:n.167A>C
ENST00000510955.5:n.167A>C
ENST00000511231.1:n.167A>C
NM_000027.3:c.133A>C	NP_000018.2:p.Arg45=
NM_001171988.1:c.133A>C	NP_001165459.1:p.Arg45=
NR_033655.1:n.261A>C
XM_006714123.2:c.133A>C	XP_006714186.1:p.Arg45=
XR_001741155.2:n.227A>C
NM_000027.4:c.133A>C MANE Select	NP_000018.2:p.Arg45=
NM_001171988.2:c.133A>C	NP_001165459.1:p.Arg45=
NR_033655.2:n.195A>C