Canonical Allele Identifier: CA385040696

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702579A>T (hg19) ; chr12:g.53308795A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308795A>T , CM000674.2:g.53308795A>T	GRCh38
NC_000012.11:g.53702579A>T , CM000674.1:g.53702579A>T	GRCh37
NC_000012.10:g.51988846A>T	NCBI36
NG_016775.1:g.17834T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1017T>A MANE Select	ENSP00000209873.4:p.Asp339Glu
ENST00000546393.7:n.1862T>A
ENST00000546562.6:n.2081T>A
ENST00000547238.6:n.1653T>A
ENST00000547520.6:n.1011T>A
ENST00000547757.2:c.66T>A	ENSP00000448020.2:p.Asp22Glu
ENST00000548880.2:n.1467T>A
ENST00000548931.6:c.537T>A	ENSP00000457518.1:p.Asp179Glu
ENST00000549450.6:n.951T>A
ENST00000552161.6:n.1973T>A
ENST00000672797.1:n.1506T>A
ENST00000672900.1:n.1959T>A
ENST00000209873.8:c.1017T>A	ENSP00000209873.4:p.Asp339Glu
ENST00000394384.7:c.918T>A	ENSP00000377908.3:p.Asp306Glu
ENST00000547520.5:n.721T>A
ENST00000548931.5:c.537T>A	ENSP00000457518.1:p.Asp179Glu
ENST00000550033.5:n.272T>A
ENST00000550286.5:c.645T>A	ENSP00000446885.1:p.Asp215Glu
ENST00000552876.5:n.1360T>A
NM_001173466.1:c.918T>A	NP_001166937.1:p.Asp306Glu
NM_015665.5:c.1017T>A	NP_056480.1:p.Asp339Glu
XM_006719617.2:c.1032T>A	XP_006719680.1:p.Asp344Glu
XM_006719619.2:c.*27T>A	XP_006719682.1:n.*27T>A
XM_011538777.1:c.1032T>A	XP_011537079.1:p.Asp344Glu
XM_011538778.1:c.1017T>A	XP_011537080.1:p.Asp339Glu
XM_011538779.1:c.933T>A	XP_011537081.1:p.Asp311Glu
XM_011538780.1:c.918T>A	XP_011537082.1:p.Asp306Glu
XM_011538781.1:c.366T>A	XP_011537083.1:p.Asp122Glu
XM_011538778.2:c.1017T>A	XP_011537080.1:p.Asp339Glu
XM_011538780.2:c.918T>A	XP_011537082.1:p.Asp306Glu
XR_001748875.2:n.1074T>A
NM_015665.6:c.1017T>A MANE Select	NP_056480.1:p.Asp339Glu
NM_001173466.2:c.918T>A	NP_001166937.1:p.Asp306Glu