Canonical Allele Identifier: CA385043878

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53315093C>A , CM000674.2:g.53315093C>A	GRCh38
NC_000012.11:g.53708877C>A , CM000674.1:g.53708877C>A	GRCh37
NC_000012.10:g.51995144C>A	NCBI36
NG_016775.1:g.11536G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.446+1G>T MANE Select	NP_056480.1:n.446+1G>T
ENST00000209873.9:c.446+1G>T MANE Select	ENSP00000209873.4:n.446+1G>T
NM_001173466.1:c.446+1G>T	NP_001166937.1:n.446+1G>T
NM_001173466.2:c.446+1G>T	NP_001166937.1:n.446+1G>T
NM_015665.5:c.446+1G>T	NP_056480.1:n.446+1G>T
ENST00000209873.8:c.446+1G>T	ENSP00000209873.4:n.446+1G>T
ENST00000394384.7:c.446+1G>T	ENSP00000377908.3:n.446+1G>T
ENST00000546393.6:n.34+1G>T
ENST00000546393.7:n.739G>T
ENST00000546562.6:n.958G>T
ENST00000547238.5:n.839+1G>T
ENST00000547238.6:n.1082+1G>T
ENST00000547520.5:n.150+1G>T
ENST00000547520.6:n.440+1G>T
ENST00000547757.1:c.446+1G>T	ENSP00000448020.1:n.446+1G>T
ENST00000547757.2:c.-407+1G>T	ENSP00000448020.2:n.-407+1G>T
ENST00000547761.6:n.338+1G>T
ENST00000548258.5:n.474+1G>T
ENST00000548880.2:n.896+1G>T
ENST00000549450.5:n.440+1G>T
ENST00000549450.6:n.380+1G>T
ENST00000549821.5:n.444+1G>T
ENST00000549983.5:n.469+1G>T
ENST00000550286.5:c.74+1G>T	ENSP00000446885.1:n.74+1G>T
ENST00000551724.5:n.496+1G>T
ENST00000552161.6:n.1402+1G>T
ENST00000552876.5:n.888+1G>T
ENST00000672797.1:n.899+1G>T
ENST00000672900.1:n.692G>T
XM_006719617.2:c.461+1G>T	XP_006719680.1:n.461+1G>T
XM_006719619.2:c.461+1G>T	XP_006719682.1:n.461+1G>T
XM_011538777.1:c.461+1G>T	XP_011537079.1:n.461+1G>T
XM_011538778.1:c.446+1G>T	XP_011537080.1:n.446+1G>T
XM_011538778.2:c.446+1G>T	XP_011537080.1:n.446+1G>T
XM_011538779.1:c.461+1G>T	XP_011537081.1:n.461+1G>T
XM_011538780.1:c.446+1G>T	XP_011537082.1:n.446+1G>T
XM_011538780.2:c.446+1G>T	XP_011537082.1:n.446+1G>T
XR_001748875.2:n.566+1G>T