Canonical Allele Identifier: CA479919145

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702952T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309168T>G , CM000674.2:g.53309168T>G	GRCh38
NC_000012.11:g.53702952T>G , CM000674.1:g.53702952T>G	GRCh37
NC_000012.10:g.51989219T>G	NCBI36
NG_016775.1:g.17461A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.924A>C MANE Select	ENSP00000209873.4:p.Ser308=
ENST00000546393.7:n.1769A>C
ENST00000546562.6:n.1988A>C
ENST00000547238.6:n.1560A>C
ENST00000547520.6:n.918A>C
ENST00000547757.2:c.-28A>C	ENSP00000448020.2:n.-28A>C
ENST00000548880.2:n.1374A>C
ENST00000548931.6:c.444A>C	ENSP00000457518.1:p.Ser148=
ENST00000549450.6:n.858A>C
ENST00000552161.6:n.1880A>C
ENST00000672797.1:n.1377A>C
ENST00000672900.1:n.1722A>C
ENST00000209873.8:c.924A>C	ENSP00000209873.4:p.Ser308=
ENST00000394384.7:c.825A>C	ENSP00000377908.3:p.Ser275=
ENST00000546393.6:n.821A>C
ENST00000546572.1:n.376A>C
ENST00000547520.5:n.628A>C
ENST00000547757.1:c.825A>C	ENSP00000448020.1:p.Ser275=
ENST00000547761.6:n.816A>C
ENST00000548931.5:c.444A>C	ENSP00000457518.1:p.Ser148=
ENST00000550033.5:n.179A>C
ENST00000550286.5:c.552A>C	ENSP00000446885.1:p.Ser184=
ENST00000552876.5:n.1267A>C
NM_001173466.1:c.825A>C	NP_001166937.1:p.Ser275=
NM_015665.5:c.924A>C	NP_056480.1:p.Ser308=
XM_006719617.2:c.939A>C	XP_006719680.1:p.Ser313=
XM_006719619.2:c.939A>C	XP_006719682.1:p.Ser313=
XM_011538777.1:c.939A>C	XP_011537079.1:p.Ser313=
XM_011538778.1:c.924A>C	XP_011537080.1:p.Ser308=
XM_011538779.1:c.840A>C	XP_011537081.1:p.Ser280=
XM_011538780.1:c.825A>C	XP_011537082.1:p.Ser275=
XM_011538781.1:c.273A>C	XP_011537083.1:p.Ser91=
XM_011538778.2:c.924A>C	XP_011537080.1:p.Ser308=
XM_011538780.2:c.825A>C	XP_011537082.1:p.Ser275=
XR_001748875.2:n.945A>C
NM_015665.6:c.924A>C MANE Select	NP_056480.1:p.Ser308=
NM_001173466.2:c.825A>C	NP_001166937.1:p.Ser275=