Canonical Allele Identifier: CA385037417

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701487G>T (hg19) ; chr12:g.53307703G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307703G>T , CM000674.2:g.53307703G>T	GRCh38
NC_000012.11:g.53701487G>T , CM000674.1:g.53701487G>T	GRCh37
NC_000012.10:g.51987754G>T	NCBI36
NG_016775.1:g.18926C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1427C>A MANE Select	ENSP00000209873.4:p.Thr476Lys
ENST00000546562.6:n.2491C>A
ENST00000547238.6:n.2063C>A
ENST00000547520.6:n.1543C>A
ENST00000547757.2:c.*345C>A	ENSP00000448020.2:n.*345C>A
ENST00000548880.2:n.1877C>A
ENST00000548931.6:c.862C>A	ENSP00000457518.1:p.Gln288Lys
ENST00000549450.6:n.1361C>A
ENST00000552161.6:n.2505C>A
ENST00000672797.1:n.1916C>A
ENST00000209873.8:c.1427C>A	ENSP00000209873.4:p.Thr476Lys
ENST00000394384.7:c.1328C>A	ENSP00000377908.3:p.Thr443Lys
ENST00000548931.5:c.862C>A	ENSP00000457518.1:p.Gln288Lys
ENST00000550286.5:c.1055C>A	ENSP00000446885.1:p.Thr352Lys
ENST00000552876.5:n.1770C>A
NM_001173466.1:c.1328C>A	NP_001166937.1:p.Thr443Lys
NM_015665.5:c.1427C>A	NP_056480.1:p.Thr476Lys
XM_006719617.2:c.1442C>A	XP_006719680.1:p.Thr481Lys
XM_011538777.1:c.1484C>A	XP_011537079.1:p.Thr495Lys
XM_011538778.1:c.1469C>A	XP_011537080.1:p.Thr490Lys
XM_011538779.1:c.1385C>A	XP_011537081.1:p.Thr462Lys
XM_011538780.1:c.1370C>A	XP_011537082.1:p.Thr457Lys
XM_011538781.1:c.818C>A	XP_011537083.1:p.Thr273Lys
XM_011538778.2:c.1469C>A	XP_011537080.1:p.Thr490Lys
XM_011538780.2:c.1370C>A	XP_011537082.1:p.Thr457Lys
XR_001748875.2:n.1484C>A
NM_015665.6:c.1427C>A MANE Select	NP_056480.1:p.Thr476Lys
NM_001173466.2:c.1328C>A	NP_001166937.1:p.Thr443Lys