Canonical Allele Identifier: CA385034412

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701277A>T (hg19) ; chr12:g.53307493A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307493A>T , CM000674.2:g.53307493A>T	GRCh38
NC_000012.11:g.53701277A>T , CM000674.1:g.53701277A>T	GRCh37
NC_000012.10:g.51987544A>T	NCBI36
NG_016775.1:g.19136T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1637T>A MANE Select	ENSP00000209873.4:p.Leu546His
ENST00000547757.2:c.*555T>A	ENSP00000448020.2:n.*555T>A
ENST00000548931.6:c.1072T>A	ENSP00000457518.1:p.Ser358Thr
ENST00000549450.6:n.1571T>A
ENST00000209873.8:c.1637T>A	ENSP00000209873.4:p.Leu546His
ENST00000394384.7:c.1538T>A	ENSP00000377908.3:p.Leu513His
ENST00000548931.5:c.1072T>A	ENSP00000457518.1:p.Ser358Thr
ENST00000550286.5:c.1265T>A	ENSP00000446885.1:p.Leu422His
ENST00000552876.5:n.1980T>A
NM_001173466.1:c.1538T>A	NP_001166937.1:p.Leu513His
NM_015665.5:c.1637T>A	NP_056480.1:p.Leu546His
XM_006719617.2:c.1652T>A	XP_006719680.1:p.Leu551His
XM_011538777.1:c.1694T>A	XP_011537079.1:p.Leu565His
XM_011538778.1:c.1679T>A	XP_011537080.1:p.Leu560His
XM_011538779.1:c.1595T>A	XP_011537081.1:p.Leu532His
XM_011538780.1:c.1580T>A	XP_011537082.1:p.Leu527His
XM_011538781.1:c.1028T>A	XP_011537083.1:p.Leu343His
XM_011538778.2:c.1679T>A	XP_011537080.1:p.Leu560His
XM_011538780.2:c.1580T>A	XP_011537082.1:p.Leu527His
XR_001748875.2:n.1694T>A
NM_015665.6:c.1637T>A MANE Select	NP_056480.1:p.Leu546His
NM_001173466.2:c.1538T>A	NP_001166937.1:p.Leu513His