Canonical Allele Identifier: CA479919194

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702964A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309180A>T , CM000674.2:g.53309180A>T	GRCh38
NC_000012.11:g.53702964A>T , CM000674.1:g.53702964A>T	GRCh37
NC_000012.10:g.51989231A>T	NCBI36
NG_016775.1:g.17449T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.912T>A MANE Select	ENSP00000209873.4:p.Ala304=
ENST00000546393.7:n.1757T>A
ENST00000546562.6:n.1976T>A
ENST00000547238.6:n.1548T>A
ENST00000547520.6:n.906T>A
ENST00000547757.2:c.-40T>A	ENSP00000448020.2:n.-40T>A
ENST00000548880.2:n.1362T>A
ENST00000548931.6:c.432T>A	ENSP00000457518.1:p.Ala144=
ENST00000549450.6:n.846T>A
ENST00000552161.6:n.1868T>A
ENST00000672797.1:n.1365T>A
ENST00000672900.1:n.1710T>A
ENST00000209873.8:c.912T>A	ENSP00000209873.4:p.Ala304=
ENST00000394384.7:c.813T>A	ENSP00000377908.3:p.Ala271=
ENST00000546393.6:n.809T>A
ENST00000546572.1:n.364T>A
ENST00000547520.5:n.616T>A
ENST00000547757.1:c.813T>A	ENSP00000448020.1:p.Ala271=
ENST00000547761.6:n.804T>A
ENST00000548931.5:c.432T>A	ENSP00000457518.1:p.Ala144=
ENST00000550033.5:n.167T>A
ENST00000550286.5:c.540T>A	ENSP00000446885.1:p.Ala180=
ENST00000552876.5:n.1255T>A
NM_001173466.1:c.813T>A	NP_001166937.1:p.Ala271=
NM_015665.5:c.912T>A	NP_056480.1:p.Ala304=
XM_006719617.2:c.927T>A	XP_006719680.1:p.Ala309=
XM_006719619.2:c.927T>A	XP_006719682.1:p.Ala309=
XM_011538777.1:c.927T>A	XP_011537079.1:p.Ala309=
XM_011538778.1:c.912T>A	XP_011537080.1:p.Ala304=
XM_011538779.1:c.828T>A	XP_011537081.1:p.Ala276=
XM_011538780.1:c.813T>A	XP_011537082.1:p.Ala271=
XM_011538781.1:c.261T>A	XP_011537083.1:p.Ala87=
XM_011538778.2:c.912T>A	XP_011537080.1:p.Ala304=
XM_011538780.2:c.813T>A	XP_011537082.1:p.Ala271=
XR_001748875.2:n.933T>A
NM_015665.6:c.912T>A MANE Select	NP_056480.1:p.Ala304=
NM_001173466.2:c.813T>A	NP_001166937.1:p.Ala271=