Canonical Allele Identifier: CA479918454

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702576G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308792G>C , CM000674.2:g.53308792G>C	GRCh38
NC_000012.11:g.53702576G>C , CM000674.1:g.53702576G>C	GRCh37
NC_000012.10:g.51988843G>C	NCBI36
NG_016775.1:g.17837C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1020C>G MANE Select	ENSP00000209873.4:p.Gly340=
ENST00000546393.7:n.1865C>G
ENST00000546562.6:n.2084C>G
ENST00000547238.6:n.1656C>G
ENST00000547520.6:n.1014C>G
ENST00000547757.2:c.69C>G	ENSP00000448020.2:p.Gly23=
ENST00000548880.2:n.1470C>G
ENST00000548931.6:c.540C>G	ENSP00000457518.1:p.Gly180=
ENST00000549450.6:n.954C>G
ENST00000552161.6:n.1976C>G
ENST00000672797.1:n.1509C>G
ENST00000672900.1:n.1962C>G
ENST00000209873.8:c.1020C>G	ENSP00000209873.4:p.Gly340=
ENST00000394384.7:c.921C>G	ENSP00000377908.3:p.Gly307=
ENST00000547520.5:n.724C>G
ENST00000548931.5:c.540C>G	ENSP00000457518.1:p.Gly180=
ENST00000550033.5:n.275C>G
ENST00000550286.5:c.648C>G	ENSP00000446885.1:p.Gly216=
ENST00000552876.5:n.1363C>G
NM_001173466.1:c.921C>G	NP_001166937.1:p.Gly307=
NM_015665.5:c.1020C>G	NP_056480.1:p.Gly340=
XM_006719617.2:c.1035C>G	XP_006719680.1:p.Gly345=
XM_006719619.2:c.*30C>G	XP_006719682.1:n.*30C>G
XM_011538777.1:c.1035C>G	XP_011537079.1:p.Gly345=
XM_011538778.1:c.1020C>G	XP_011537080.1:p.Gly340=
XM_011538779.1:c.936C>G	XP_011537081.1:p.Gly312=
XM_011538780.1:c.921C>G	XP_011537082.1:p.Gly307=
XM_011538781.1:c.369C>G	XP_011537083.1:p.Gly123=
XM_011538778.2:c.1020C>G	XP_011537080.1:p.Gly340=
XM_011538780.2:c.921C>G	XP_011537082.1:p.Gly307=
XR_001748875.2:n.1077C>G
NM_015665.6:c.1020C>G MANE Select	NP_056480.1:p.Gly340=
NM_001173466.2:c.921C>G	NP_001166937.1:p.Gly307=