Canonical Allele Identifier: CA479918492

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702756T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308972T>C , CM000674.2:g.53308972T>C	GRCh38
NC_000012.11:g.53702756T>C , CM000674.1:g.53702756T>C	GRCh37
NC_000012.10:g.51989023T>C	NCBI36
NG_016775.1:g.17657A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.984A>G MANE Select	ENSP00000209873.4:p.Ser328=
ENST00000546393.7:n.1829A>G
ENST00000546562.6:n.2048A>G
ENST00000547238.6:n.1620A>G
ENST00000547520.6:n.978A>G
ENST00000547757.2:c.33A>G	ENSP00000448020.2:p.Ser11=
ENST00000548880.2:n.1434A>G
ENST00000548931.6:c.504A>G	ENSP00000457518.1:p.Ser168=
ENST00000549450.6:n.918A>G
ENST00000552161.6:n.1940A>G
ENST00000672797.1:n.1437A>G
ENST00000672900.1:n.1782A>G
ENST00000209873.8:c.984A>G	ENSP00000209873.4:p.Ser328=
ENST00000394384.7:c.885A>G	ENSP00000377908.3:p.Ser295=
ENST00000546572.1:n.572A>G
ENST00000547520.5:n.688A>G
ENST00000548931.5:c.504A>G	ENSP00000457518.1:p.Ser168=
ENST00000550033.5:n.239A>G
ENST00000550286.5:c.612A>G	ENSP00000446885.1:p.Ser204=
ENST00000552876.5:n.1327A>G
NM_001173466.1:c.885A>G	NP_001166937.1:p.Ser295=
NM_015665.5:c.984A>G	NP_056480.1:p.Ser328=
XM_006719617.2:c.999A>G	XP_006719680.1:p.Ser333=
XM_006719619.2:c.999A>G	XP_006719682.1:p.Ser333=
XM_011538777.1:c.999A>G	XP_011537079.1:p.Ser333=
XM_011538778.1:c.984A>G	XP_011537080.1:p.Ser328=
XM_011538779.1:c.900A>G	XP_011537081.1:p.Ser300=
XM_011538780.1:c.885A>G	XP_011537082.1:p.Ser295=
XM_011538781.1:c.333A>G	XP_011537083.1:p.Ser111=
XM_011538778.2:c.984A>G	XP_011537080.1:p.Ser328=
XM_011538780.2:c.885A>G	XP_011537082.1:p.Ser295=
XR_001748875.2:n.1005A>G
NM_015665.6:c.984A>G MANE Select	NP_056480.1:p.Ser328=
NM_001173466.2:c.885A>G	NP_001166937.1:p.Ser295=