Canonical Allele Identifier: CA385037101

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701460T>A (hg19) ; chr12:g.53307676T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307676T>A , CM000674.2:g.53307676T>A	GRCh38
NC_000012.11:g.53701460T>A , CM000674.1:g.53701460T>A	GRCh37
NC_000012.10:g.51987727T>A	NCBI36
NG_016775.1:g.18953A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1454A>T MANE Select	ENSP00000209873.4:p.Tyr485Phe
ENST00000546562.6:n.2518A>T
ENST00000547238.6:n.2090A>T
ENST00000547520.6:n.1570A>T
ENST00000547757.2:c.*372A>T	ENSP00000448020.2:n.*372A>T
ENST00000548880.2:n.1904A>T
ENST00000548931.6:c.889A>T	ENSP00000457518.1:p.Thr297Ser
ENST00000549450.6:n.1388A>T
ENST00000552161.6:n.2532A>T
ENST00000672797.1:n.1943A>T
ENST00000209873.8:c.1454A>T	ENSP00000209873.4:p.Tyr485Phe
ENST00000394384.7:c.1355A>T	ENSP00000377908.3:p.Tyr452Phe
ENST00000548931.5:c.889A>T	ENSP00000457518.1:p.Thr297Ser
ENST00000550286.5:c.1082A>T	ENSP00000446885.1:p.Tyr361Phe
ENST00000552876.5:n.1797A>T
NM_001173466.1:c.1355A>T	NP_001166937.1:p.Tyr452Phe
NM_015665.5:c.1454A>T	NP_056480.1:p.Tyr485Phe
XM_006719617.2:c.1469A>T	XP_006719680.1:p.Tyr490Phe
XM_011538777.1:c.1511A>T	XP_011537079.1:p.Tyr504Phe
XM_011538778.1:c.1496A>T	XP_011537080.1:p.Tyr499Phe
XM_011538779.1:c.1412A>T	XP_011537081.1:p.Tyr471Phe
XM_011538780.1:c.1397A>T	XP_011537082.1:p.Tyr466Phe
XM_011538781.1:c.845A>T	XP_011537083.1:p.Tyr282Phe
XM_011538778.2:c.1496A>T	XP_011537080.1:p.Tyr499Phe
XM_011538780.2:c.1397A>T	XP_011537082.1:p.Tyr466Phe
XR_001748875.2:n.1511A>T
NM_015665.6:c.1454A>T MANE Select	NP_056480.1:p.Tyr485Phe
NM_001173466.2:c.1355A>T	NP_001166937.1:p.Tyr452Phe