Canonical Allele Identifier: CA385037152

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701464G>T (hg19) ; chr12:g.53307680G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307680G>T , CM000674.2:g.53307680G>T	GRCh38
NC_000012.11:g.53701464G>T , CM000674.1:g.53701464G>T	GRCh37
NC_000012.10:g.51987731G>T	NCBI36
NG_016775.1:g.18949C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1450C>A MANE Select	ENSP00000209873.4:p.Leu484Met
ENST00000546562.6:n.2514C>A
ENST00000547238.6:n.2086C>A
ENST00000547520.6:n.1566C>A
ENST00000547757.2:c.*368C>A	ENSP00000448020.2:n.*368C>A
ENST00000548880.2:n.1900C>A
ENST00000548931.6:c.885C>A	ENSP00000457518.1:p.Arg295=
ENST00000549450.6:n.1384C>A
ENST00000552161.6:n.2528C>A
ENST00000672797.1:n.1939C>A
ENST00000209873.8:c.1450C>A	ENSP00000209873.4:p.Leu484Met
ENST00000394384.7:c.1351C>A	ENSP00000377908.3:p.Leu451Met
ENST00000548931.5:c.885C>A	ENSP00000457518.1:p.Arg295=
ENST00000550286.5:c.1078C>A	ENSP00000446885.1:p.Leu360Met
ENST00000552876.5:n.1793C>A
NM_001173466.1:c.1351C>A	NP_001166937.1:p.Leu451Met
NM_015665.5:c.1450C>A	NP_056480.1:p.Leu484Met
XM_006719617.2:c.1465C>A	XP_006719680.1:p.Leu489Met
XM_011538777.1:c.1507C>A	XP_011537079.1:p.Leu503Met
XM_011538778.1:c.1492C>A	XP_011537080.1:p.Leu498Met
XM_011538779.1:c.1408C>A	XP_011537081.1:p.Leu470Met
XM_011538780.1:c.1393C>A	XP_011537082.1:p.Leu465Met
XM_011538781.1:c.841C>A	XP_011537083.1:p.Leu281Met
XM_011538778.2:c.1492C>A	XP_011537080.1:p.Leu498Met
XM_011538780.2:c.1393C>A	XP_011537082.1:p.Leu465Met
XR_001748875.2:n.1507C>A
NM_015665.6:c.1450C>A MANE Select	NP_056480.1:p.Leu484Met
NM_001173466.2:c.1351C>A	NP_001166937.1:p.Leu451Met