Canonical Allele Identifier: CA385041739

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702960T>A (hg19) ; chr12:g.53309176T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309176T>A , CM000674.2:g.53309176T>A	GRCh38
NC_000012.11:g.53702960T>A , CM000674.1:g.53702960T>A	GRCh37
NC_000012.10:g.51989227T>A	NCBI36
NG_016775.1:g.17453A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.916A>T MANE Select	ENSP00000209873.4:p.Thr306Ser
ENST00000546393.7:n.1761A>T
ENST00000546562.6:n.1980A>T
ENST00000547238.6:n.1552A>T
ENST00000547520.6:n.910A>T
ENST00000547757.2:c.-36A>T	ENSP00000448020.2:n.-36A>T
ENST00000548880.2:n.1366A>T
ENST00000548931.6:c.436A>T	ENSP00000457518.1:p.Thr146Ser
ENST00000549450.6:n.850A>T
ENST00000552161.6:n.1872A>T
ENST00000672797.1:n.1369A>T
ENST00000672900.1:n.1714A>T
ENST00000209873.8:c.916A>T	ENSP00000209873.4:p.Thr306Ser
ENST00000394384.7:c.817A>T	ENSP00000377908.3:p.Thr273Ser
ENST00000546393.6:n.813A>T
ENST00000546572.1:n.368A>T
ENST00000547520.5:n.620A>T
ENST00000547757.1:c.817A>T	ENSP00000448020.1:p.Thr273Ser
ENST00000547761.6:n.808A>T
ENST00000548931.5:c.436A>T	ENSP00000457518.1:p.Thr146Ser
ENST00000550033.5:n.171A>T
ENST00000550286.5:c.544A>T	ENSP00000446885.1:p.Thr182Ser
ENST00000552876.5:n.1259A>T
NM_001173466.1:c.817A>T	NP_001166937.1:p.Thr273Ser
NM_015665.5:c.916A>T	NP_056480.1:p.Thr306Ser
XM_006719617.2:c.931A>T	XP_006719680.1:p.Thr311Ser
XM_006719619.2:c.931A>T	XP_006719682.1:p.Thr311Ser
XM_011538777.1:c.931A>T	XP_011537079.1:p.Thr311Ser
XM_011538778.1:c.916A>T	XP_011537080.1:p.Thr306Ser
XM_011538779.1:c.832A>T	XP_011537081.1:p.Thr278Ser
XM_011538780.1:c.817A>T	XP_011537082.1:p.Thr273Ser
XM_011538781.1:c.265A>T	XP_011537083.1:p.Thr89Ser
XM_011538778.2:c.916A>T	XP_011537080.1:p.Thr306Ser
XM_011538780.2:c.817A>T	XP_011537082.1:p.Thr273Ser
XR_001748875.2:n.937A>T
NM_015665.6:c.916A>T MANE Select	NP_056480.1:p.Thr306Ser
NM_001173466.2:c.817A>T	NP_001166937.1:p.Thr273Ser