Canonical Allele Identifier: CA385037107

Gene: AAAS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1454A>C MANE Select	ENSP00000209873.4:p.Tyr485Ser
ENST00000546562.6:n.2518A>C
ENST00000547238.6:n.2090A>C
ENST00000547520.6:n.1570A>C
ENST00000547757.2:c.*372A>C	ENSP00000448020.2:n.*372A>C
ENST00000548880.2:n.1904A>C
ENST00000548931.6:c.889A>C	ENSP00000457518.1:p.Thr297Pro
ENST00000549450.6:n.1388A>C
ENST00000552161.6:n.2532A>C
ENST00000672797.1:n.1943A>C
ENST00000209873.8:c.1454A>C	ENSP00000209873.4:p.Tyr485Ser
ENST00000394384.7:c.1355A>C	ENSP00000377908.3:p.Tyr452Ser
ENST00000548931.5:c.889A>C	ENSP00000457518.1:p.Thr297Pro
ENST00000550286.5:c.1082A>C	ENSP00000446885.1:p.Tyr361Ser
ENST00000552876.5:n.1797A>C
NM_001173466.1:c.1355A>C	NP_001166937.1:p.Tyr452Ser
NM_015665.5:c.1454A>C	NP_056480.1:p.Tyr485Ser
XM_006719617.2:c.1469A>C	XP_006719680.1:p.Tyr490Ser
XM_011538777.1:c.1511A>C	XP_011537079.1:p.Tyr504Ser
XM_011538778.1:c.1496A>C	XP_011537080.1:p.Tyr499Ser
XM_011538779.1:c.1412A>C	XP_011537081.1:p.Tyr471Ser
XM_011538780.1:c.1397A>C	XP_011537082.1:p.Tyr466Ser
XM_011538781.1:c.845A>C	XP_011537083.1:p.Tyr282Ser
XM_011538778.2:c.1496A>C	XP_011537080.1:p.Tyr499Ser
XM_011538780.2:c.1397A>C	XP_011537082.1:p.Tyr466Ser
XR_001748875.2:n.1511A>C
NM_015665.6:c.1454A>C MANE Select	NP_056480.1:p.Tyr485Ser
NM_001173466.2:c.1355A>C	NP_001166937.1:p.Tyr452Ser