Canonical Allele Identifier: CA479918456

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702579A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1017T>C MANE Select	ENSP00000209873.4:p.Asp339=
ENST00000546393.7:n.1862T>C
ENST00000546562.6:n.2081T>C
ENST00000547238.6:n.1653T>C
ENST00000547520.6:n.1011T>C
ENST00000547757.2:c.66T>C	ENSP00000448020.2:p.Asp22=
ENST00000548880.2:n.1467T>C
ENST00000548931.6:c.537T>C	ENSP00000457518.1:p.Asp179=
ENST00000549450.6:n.951T>C
ENST00000552161.6:n.1973T>C
ENST00000672797.1:n.1506T>C
ENST00000672900.1:n.1959T>C
ENST00000209873.8:c.1017T>C	ENSP00000209873.4:p.Asp339=
ENST00000394384.7:c.918T>C	ENSP00000377908.3:p.Asp306=
ENST00000547520.5:n.721T>C
ENST00000548931.5:c.537T>C	ENSP00000457518.1:p.Asp179=
ENST00000550033.5:n.272T>C
ENST00000550286.5:c.645T>C	ENSP00000446885.1:p.Asp215=
ENST00000552876.5:n.1360T>C
NM_001173466.1:c.918T>C	NP_001166937.1:p.Asp306=
NM_015665.5:c.1017T>C	NP_056480.1:p.Asp339=
XM_006719617.2:c.1032T>C	XP_006719680.1:p.Asp344=
XM_006719619.2:c.*27T>C	XP_006719682.1:n.*27T>C
XM_011538777.1:c.1032T>C	XP_011537079.1:p.Asp344=
XM_011538778.1:c.1017T>C	XP_011537080.1:p.Asp339=
XM_011538779.1:c.933T>C	XP_011537081.1:p.Asp311=
XM_011538780.1:c.918T>C	XP_011537082.1:p.Asp306=
XM_011538781.1:c.366T>C	XP_011537083.1:p.Asp122=
XM_011538778.2:c.1017T>C	XP_011537080.1:p.Asp339=
XM_011538780.2:c.918T>C	XP_011537082.1:p.Asp306=
XR_001748875.2:n.1074T>C
NM_015665.6:c.1017T>C MANE Select	NP_056480.1:p.Asp339=
NM_001173466.2:c.918T>C	NP_001166937.1:p.Asp306=