Canonical Allele Identifier: CA385042176

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309600C>T , CM000674.2:g.53309600C>T	GRCh38
NC_000012.11:g.53703384C>T , CM000674.1:g.53703384C>T	GRCh37
NC_000012.10:g.51989651C>T	NCBI36
NG_016775.1:g.17029G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.810+1G>A MANE Select	NP_056480.1:n.810+1G>A
ENST00000209873.9:c.810+1G>A MANE Select	ENSP00000209873.4:n.810+1G>A
NM_001173466.1:c.711+1G>A	NP_001166937.1:n.711+1G>A
NM_001173466.2:c.711+1G>A	NP_001166937.1:n.711+1G>A
NM_015665.5:c.810+1G>A	NP_056480.1:n.810+1G>A
ENST00000209873.8:c.810+1G>A	ENSP00000209873.4:n.810+1G>A
ENST00000394384.7:c.711+1G>A	ENSP00000377908.3:n.711+1G>A
ENST00000546393.6:n.707+1G>A
ENST00000546393.7:n.1655+1G>A
ENST00000546562.6:n.1874+1G>A
ENST00000546572.1:n.262+1G>A
ENST00000547238.6:n.1446+1G>A
ENST00000547520.5:n.514+1G>A
ENST00000547520.6:n.804+1G>A
ENST00000547757.1:c.711+1G>A	ENSP00000448020.1:n.711+1G>A
ENST00000547757.2:c.-142+1G>A	ENSP00000448020.2:n.-142+1G>A
ENST00000547761.6:n.702+1G>A
ENST00000548880.2:n.1260+1G>A
ENST00000548931.5:c.330+1G>A	ENSP00000457518.1:n.330+1G>A
ENST00000548931.6:c.330+1G>A	ENSP00000457518.1:n.330+1G>A
ENST00000549450.6:n.744+1G>A
ENST00000549983.5:n.833+1G>A
ENST00000550033.5:n.65+1G>A
ENST00000550286.5:c.438+1G>A	ENSP00000446885.1:n.438+1G>A
ENST00000552161.6:n.1766+1G>A
ENST00000552876.5:n.1153+1G>A
ENST00000672797.1:n.1263+1G>A
ENST00000672900.1:n.1608+1G>A
XM_006719617.2:c.825+1G>A	XP_006719680.1:n.825+1G>A
XM_006719619.2:c.825+1G>A	XP_006719682.1:n.825+1G>A
XM_011538777.1:c.825+1G>A	XP_011537079.1:n.825+1G>A
XM_011538778.1:c.810+1G>A	XP_011537080.1:n.810+1G>A
XM_011538778.2:c.810+1G>A	XP_011537080.1:n.810+1G>A
XM_011538779.1:c.726+1G>A	XP_011537081.1:n.726+1G>A
XM_011538780.1:c.711+1G>A	XP_011537082.1:n.711+1G>A
XM_011538780.2:c.711+1G>A	XP_011537082.1:n.711+1G>A
XM_011538781.1:c.159+1G>A	XP_011537083.1:n.159+1G>A
XR_001748875.2:n.831+1G>A