Canonical Allele Identifier: CA385034951

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701350A>T (hg19) ; chr12:g.53307566A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307566A>T , CM000674.2:g.53307566A>T	GRCh38
NC_000012.11:g.53701350A>T , CM000674.1:g.53701350A>T	GRCh37
NC_000012.10:g.51987617A>T	NCBI36
NG_016775.1:g.19063T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1564T>A MANE Select	ENSP00000209873.4:p.Ser522Thr
ENST00000546562.6:n.2628T>A
ENST00000547238.6:n.2200T>A
ENST00000547520.6:n.1680T>A
ENST00000547757.2:c.*482T>A	ENSP00000448020.2:n.*482T>A
ENST00000548931.6:c.999T>A	ENSP00000457518.1:p.His333Gln
ENST00000549450.6:n.1498T>A
ENST00000672797.1:n.2053T>A
ENST00000209873.8:c.1564T>A	ENSP00000209873.4:p.Ser522Thr
ENST00000394384.7:c.1465T>A	ENSP00000377908.3:p.Ser489Thr
ENST00000548931.5:c.999T>A	ENSP00000457518.1:p.His333Gln
ENST00000550286.5:c.1192T>A	ENSP00000446885.1:p.Ser398Thr
ENST00000552876.5:n.1907T>A
NM_001173466.1:c.1465T>A	NP_001166937.1:p.Ser489Thr
NM_015665.5:c.1564T>A	NP_056480.1:p.Ser522Thr
XM_006719617.2:c.1579T>A	XP_006719680.1:p.Ser527Thr
XM_011538777.1:c.1621T>A	XP_011537079.1:p.Ser541Thr
XM_011538778.1:c.1606T>A	XP_011537080.1:p.Ser536Thr
XM_011538779.1:c.1522T>A	XP_011537081.1:p.Ser508Thr
XM_011538780.1:c.1507T>A	XP_011537082.1:p.Ser503Thr
XM_011538781.1:c.955T>A	XP_011537083.1:p.Ser319Thr
XM_011538778.2:c.1606T>A	XP_011537080.1:p.Ser536Thr
XM_011538780.2:c.1507T>A	XP_011537082.1:p.Ser503Thr
XR_001748875.2:n.1621T>A
NM_015665.6:c.1564T>A MANE Select	NP_056480.1:p.Ser522Thr
NM_001173466.2:c.1465T>A	NP_001166937.1:p.Ser489Thr