Canonical Allele Identifier: CA479919184

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702961G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309177G>C , CM000674.2:g.53309177G>C	GRCh38
NC_000012.11:g.53702961G>C , CM000674.1:g.53702961G>C	GRCh37
NC_000012.10:g.51989228G>C	NCBI36
NG_016775.1:g.17452C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.915C>G MANE Select	ENSP00000209873.4:p.Thr305=
ENST00000546393.7:n.1760C>G
ENST00000546562.6:n.1979C>G
ENST00000547238.6:n.1551C>G
ENST00000547520.6:n.909C>G
ENST00000547757.2:c.-37C>G	ENSP00000448020.2:n.-37C>G
ENST00000548880.2:n.1365C>G
ENST00000548931.6:c.435C>G	ENSP00000457518.1:p.Thr145=
ENST00000549450.6:n.849C>G
ENST00000552161.6:n.1871C>G
ENST00000672797.1:n.1368C>G
ENST00000672900.1:n.1713C>G
ENST00000209873.8:c.915C>G	ENSP00000209873.4:p.Thr305=
ENST00000394384.7:c.816C>G	ENSP00000377908.3:p.Thr272=
ENST00000546393.6:n.812C>G
ENST00000546572.1:n.367C>G
ENST00000547520.5:n.619C>G
ENST00000547757.1:c.816C>G	ENSP00000448020.1:p.Thr272=
ENST00000547761.6:n.807C>G
ENST00000548931.5:c.435C>G	ENSP00000457518.1:p.Thr145=
ENST00000550033.5:n.170C>G
ENST00000550286.5:c.543C>G	ENSP00000446885.1:p.Thr181=
ENST00000552876.5:n.1258C>G
NM_001173466.1:c.816C>G	NP_001166937.1:p.Thr272=
NM_015665.5:c.915C>G	NP_056480.1:p.Thr305=
XM_006719617.2:c.930C>G	XP_006719680.1:p.Thr310=
XM_006719619.2:c.930C>G	XP_006719682.1:p.Thr310=
XM_011538777.1:c.930C>G	XP_011537079.1:p.Thr310=
XM_011538778.1:c.915C>G	XP_011537080.1:p.Thr305=
XM_011538779.1:c.831C>G	XP_011537081.1:p.Thr277=
XM_011538780.1:c.816C>G	XP_011537082.1:p.Thr272=
XM_011538781.1:c.264C>G	XP_011537083.1:p.Thr88=
XM_011538778.2:c.915C>G	XP_011537080.1:p.Thr305=
XM_011538780.2:c.816C>G	XP_011537082.1:p.Thr272=
XR_001748875.2:n.936C>G
NM_015665.6:c.915C>G MANE Select	NP_056480.1:p.Thr305=
NM_001173466.2:c.816C>G	NP_001166937.1:p.Thr272=