Canonical Allele Identifier: CA385034548

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701295T>A (hg19) ; chr12:g.53307511T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307511T>A , CM000674.2:g.53307511T>A	GRCh38
NC_000012.11:g.53701295T>A , CM000674.1:g.53701295T>A	GRCh37
NC_000012.10:g.51987562T>A	NCBI36
NG_016775.1:g.19118A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1619A>T MANE Select	ENSP00000209873.4:p.His540Leu
ENST00000546562.6:n.2683A>T
ENST00000547757.2:c.*537A>T	ENSP00000448020.2:n.*537A>T
ENST00000548931.6:c.1054A>T	ENSP00000457518.1:p.Thr352Ser
ENST00000549450.6:n.1553A>T
ENST00000209873.8:c.1619A>T	ENSP00000209873.4:p.His540Leu
ENST00000394384.7:c.1520A>T	ENSP00000377908.3:p.His507Leu
ENST00000548931.5:c.1054A>T	ENSP00000457518.1:p.Thr352Ser
ENST00000550286.5:c.1247A>T	ENSP00000446885.1:p.His416Leu
ENST00000552876.5:n.1962A>T
NM_001173466.1:c.1520A>T	NP_001166937.1:p.His507Leu
NM_015665.5:c.1619A>T	NP_056480.1:p.His540Leu
XM_006719617.2:c.1634A>T	XP_006719680.1:p.His545Leu
XM_011538777.1:c.1676A>T	XP_011537079.1:p.His559Leu
XM_011538778.1:c.1661A>T	XP_011537080.1:p.His554Leu
XM_011538779.1:c.1577A>T	XP_011537081.1:p.His526Leu
XM_011538780.1:c.1562A>T	XP_011537082.1:p.His521Leu
XM_011538781.1:c.1010A>T	XP_011537083.1:p.His337Leu
XM_011538778.2:c.1661A>T	XP_011537080.1:p.His554Leu
XM_011538780.2:c.1562A>T	XP_011537082.1:p.His521Leu
XR_001748875.2:n.1676A>T
NM_015665.6:c.1619A>T MANE Select	NP_056480.1:p.His540Leu
NM_001173466.2:c.1520A>T	NP_001166937.1:p.His507Leu