Canonical Allele Identifier: CA479919168

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702958A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309174A>C , CM000674.2:g.53309174A>C	GRCh38
NC_000012.11:g.53702958A>C , CM000674.1:g.53702958A>C	GRCh37
NC_000012.10:g.51989225A>C	NCBI36
NG_016775.1:g.17455T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.918T>G MANE Select	ENSP00000209873.4:p.Thr306=
ENST00000546393.7:n.1763T>G
ENST00000546562.6:n.1982T>G
ENST00000547238.6:n.1554T>G
ENST00000547520.6:n.912T>G
ENST00000547757.2:c.-34T>G	ENSP00000448020.2:n.-34T>G
ENST00000548880.2:n.1368T>G
ENST00000548931.6:c.438T>G	ENSP00000457518.1:p.Thr146=
ENST00000549450.6:n.852T>G
ENST00000552161.6:n.1874T>G
ENST00000672797.1:n.1371T>G
ENST00000672900.1:n.1716T>G
ENST00000209873.8:c.918T>G	ENSP00000209873.4:p.Thr306=
ENST00000394384.7:c.819T>G	ENSP00000377908.3:p.Thr273=
ENST00000546393.6:n.815T>G
ENST00000546572.1:n.370T>G
ENST00000547520.5:n.622T>G
ENST00000547757.1:c.819T>G	ENSP00000448020.1:p.Thr273=
ENST00000547761.6:n.810T>G
ENST00000548931.5:c.438T>G	ENSP00000457518.1:p.Thr146=
ENST00000550033.5:n.173T>G
ENST00000550286.5:c.546T>G	ENSP00000446885.1:p.Thr182=
ENST00000552876.5:n.1261T>G
NM_001173466.1:c.819T>G	NP_001166937.1:p.Thr273=
NM_015665.5:c.918T>G	NP_056480.1:p.Thr306=
XM_006719617.2:c.933T>G	XP_006719680.1:p.Thr311=
XM_006719619.2:c.933T>G	XP_006719682.1:p.Thr311=
XM_011538777.1:c.933T>G	XP_011537079.1:p.Thr311=
XM_011538778.1:c.918T>G	XP_011537080.1:p.Thr306=
XM_011538779.1:c.834T>G	XP_011537081.1:p.Thr278=
XM_011538780.1:c.819T>G	XP_011537082.1:p.Thr273=
XM_011538781.1:c.267T>G	XP_011537083.1:p.Thr89=
XM_011538778.2:c.918T>G	XP_011537080.1:p.Thr306=
XM_011538780.2:c.819T>G	XP_011537082.1:p.Thr273=
XR_001748875.2:n.939T>G
NM_015665.6:c.918T>G MANE Select	NP_056480.1:p.Thr306=
NM_001173466.2:c.819T>G	NP_001166937.1:p.Thr273=