Canonical Allele Identifier: CA385040286

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702523A>T (hg19) ; chr12:g.53308739A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308739A>T , CM000674.2:g.53308739A>T	GRCh38
NC_000012.11:g.53702523A>T , CM000674.1:g.53702523A>T	GRCh37
NC_000012.10:g.51988790A>T	NCBI36
NG_016775.1:g.17890T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1073T>A MANE Select	ENSP00000209873.4:p.Phe358Tyr
ENST00000546562.6:n.2137T>A
ENST00000547238.6:n.1709T>A
ENST00000547520.6:n.1067T>A
ENST00000547757.2:c.122T>A	ENSP00000448020.2:p.Phe41Tyr
ENST00000548880.2:n.1523T>A
ENST00000548931.6:c.593T>A	ENSP00000457518.1:p.Phe198Tyr
ENST00000549450.6:n.1007T>A
ENST00000552161.6:n.2029T>A
ENST00000672797.1:n.1562T>A
ENST00000672900.1:n.2015T>A
ENST00000209873.8:c.1073T>A	ENSP00000209873.4:p.Phe358Tyr
ENST00000394384.7:c.974T>A	ENSP00000377908.3:p.Phe325Tyr
ENST00000548931.5:c.593T>A	ENSP00000457518.1:p.Phe198Tyr
ENST00000550033.5:n.328T>A
ENST00000550286.5:c.701T>A	ENSP00000446885.1:p.Phe234Tyr
ENST00000552876.5:n.1416T>A
NM_001173466.1:c.974T>A	NP_001166937.1:p.Phe325Tyr
NM_015665.5:c.1073T>A	NP_056480.1:p.Phe358Tyr
XM_006719617.2:c.1088T>A	XP_006719680.1:p.Phe363Tyr
XM_011538777.1:c.1088T>A	XP_011537079.1:p.Phe363Tyr
XM_011538778.1:c.1073T>A	XP_011537080.1:p.Phe358Tyr
XM_011538779.1:c.989T>A	XP_011537081.1:p.Phe330Tyr
XM_011538780.1:c.974T>A	XP_011537082.1:p.Phe325Tyr
XM_011538781.1:c.422T>A	XP_011537083.1:p.Phe141Tyr
XM_011538778.2:c.1073T>A	XP_011537080.1:p.Phe358Tyr
XM_011538780.2:c.974T>A	XP_011537082.1:p.Phe325Tyr
XR_001748875.2:n.1130T>A
NM_015665.6:c.1073T>A MANE Select	NP_056480.1:p.Phe358Tyr
NM_001173466.2:c.974T>A	NP_001166937.1:p.Phe325Tyr