Canonical Allele Identifier: CA385036925

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701444C>A (hg19) ; chr12:g.53307660C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307660C>A , CM000674.2:g.53307660C>A	GRCh38
NC_000012.11:g.53701444C>A , CM000674.1:g.53701444C>A	GRCh37
NC_000012.10:g.51987711C>A	NCBI36
NG_016775.1:g.18969G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1470G>T MANE Select	ENSP00000209873.4:p.Gln490His
ENST00000546562.6:n.2534G>T
ENST00000547238.6:n.2106G>T
ENST00000547520.6:n.1586G>T
ENST00000547757.2:c.*388G>T	ENSP00000448020.2:n.*388G>T
ENST00000548880.2:n.1920G>T
ENST00000548931.6:c.905G>T	ENSP00000457518.1:p.Ser302Ile
ENST00000549450.6:n.1404G>T
ENST00000552161.6:n.2548G>T
ENST00000672797.1:n.1959G>T
ENST00000209873.8:c.1470G>T	ENSP00000209873.4:p.Gln490His
ENST00000394384.7:c.1371G>T	ENSP00000377908.3:p.Gln457His
ENST00000548931.5:c.905G>T	ENSP00000457518.1:p.Ser302Ile
ENST00000550286.5:c.1098G>T	ENSP00000446885.1:p.Gln366His
ENST00000552876.5:n.1813G>T
NM_001173466.1:c.1371G>T	NP_001166937.1:p.Gln457His
NM_015665.5:c.1470G>T	NP_056480.1:p.Gln490His
XM_006719617.2:c.1485G>T	XP_006719680.1:p.Gln495His
XM_011538777.1:c.1527G>T	XP_011537079.1:p.Gln509His
XM_011538778.1:c.1512G>T	XP_011537080.1:p.Gln504His
XM_011538779.1:c.1428G>T	XP_011537081.1:p.Gln476His
XM_011538780.1:c.1413G>T	XP_011537082.1:p.Gln471His
XM_011538781.1:c.861G>T	XP_011537083.1:p.Gln287His
XM_011538778.2:c.1512G>T	XP_011537080.1:p.Gln504His
XM_011538780.2:c.1413G>T	XP_011537082.1:p.Gln471His
XR_001748875.2:n.1527G>T
NM_015665.6:c.1470G>T MANE Select	NP_056480.1:p.Gln490His
NM_001173466.2:c.1371G>T	NP_001166937.1:p.Gln457His