Canonical Allele Identifier: CA442332328

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355628T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434474T>C , CM000666.2:g.177434474T>C	GRCh38
NC_000004.11:g.178355628T>C , CM000666.1:g.178355628T>C	GRCh37
NC_000004.10:g.178592622T>C	NCBI36
NG_011845.2:g.13030A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.714A>G MANE Select	ENSP00000264595.2:p.Ser238=
ENST00000264595.6:c.714A>G	ENSP00000264595.2:p.Ser238=
ENST00000502310.5:c.285A>G	ENSP00000423798.1:p.Ser95=
ENST00000506853.5:n.672A>G
ENST00000510635.1:c.380A>G
NM_000027.3:c.714A>G	NP_000018.2:p.Ser238=
NM_001171988.1:c.684A>G	NP_001165459.1:p.Ser228=
NR_033655.1:n.766A>G
XM_006714123.2:c.*8A>G	XP_006714186.1:n.*8A>G
XR_001741155.2:n.786A>G
NM_000027.4:c.714A>G MANE Select	NP_000018.2:p.Ser238=
NM_001171988.2:c.684A>G	NP_001165459.1:p.Ser228=
NR_033655.2:n.700A>G