Canonical Allele Identifier: CA479918437

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702555T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308771T>C , CM000674.2:g.53308771T>C	GRCh38
NC_000012.11:g.53702555T>C , CM000674.1:g.53702555T>C	GRCh37
NC_000012.10:g.51988822T>C	NCBI36
NG_016775.1:g.17858A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1041A>G MANE Select	ENSP00000209873.4:p.Val347=
ENST00000546562.6:n.2105A>G
ENST00000547238.6:n.1677A>G
ENST00000547520.6:n.1035A>G
ENST00000547757.2:c.90A>G	ENSP00000448020.2:p.Val30=
ENST00000548880.2:n.1491A>G
ENST00000548931.6:c.561A>G	ENSP00000457518.1:p.Val187=
ENST00000549450.6:n.975A>G
ENST00000552161.6:n.1997A>G
ENST00000672797.1:n.1530A>G
ENST00000672900.1:n.1983A>G
ENST00000209873.8:c.1041A>G	ENSP00000209873.4:p.Val347=
ENST00000394384.7:c.942A>G	ENSP00000377908.3:p.Val314=
ENST00000547520.5:n.745A>G
ENST00000548931.5:c.561A>G	ENSP00000457518.1:p.Val187=
ENST00000550033.5:n.296A>G
ENST00000550286.5:c.669A>G	ENSP00000446885.1:p.Val223=
ENST00000552876.5:n.1384A>G
NM_001173466.1:c.942A>G	NP_001166937.1:p.Val314=
NM_015665.5:c.1041A>G	NP_056480.1:p.Val347=
XM_006719617.2:c.1056A>G	XP_006719680.1:p.Val352=
XM_006719619.2:c.*51A>G	XP_006719682.1:n.*51A>G
XM_011538777.1:c.1056A>G	XP_011537079.1:p.Val352=
XM_011538778.1:c.1041A>G	XP_011537080.1:p.Val347=
XM_011538779.1:c.957A>G	XP_011537081.1:p.Val319=
XM_011538780.1:c.942A>G	XP_011537082.1:p.Val314=
XM_011538781.1:c.390A>G	XP_011537083.1:p.Val130=
XM_011538778.2:c.1041A>G	XP_011537080.1:p.Val347=
XM_011538780.2:c.942A>G	XP_011537082.1:p.Val314=
XR_001748875.2:n.1098A>G
NM_015665.6:c.1041A>G MANE Select	NP_056480.1:p.Val347=
NM_001173466.2:c.942A>G	NP_001166937.1:p.Val314=