Canonical Allele Identifier: CA385044480

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53315733C>A , CM000674.2:g.53315733C>A	GRCh38
NC_000012.11:g.53709517C>A , CM000674.1:g.53709517C>A	GRCh37
NC_000012.10:g.51995784C>A	NCBI36
NG_016775.1:g.10896G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.301G>T MANE Select	NP_056480.1:p.Glu101Ter
ENST00000209873.9:c.301G>T MANE Select	ENSP00000209873.4:p.Glu101Ter
NM_001173466.1:c.301G>T	NP_001166937.1:p.Glu101Ter
NM_001173466.2:c.301G>T	NP_001166937.1:p.Glu101Ter
NM_015665.5:c.301G>T	NP_056480.1:p.Glu101Ter
ENST00000209873.8:c.301G>T	ENSP00000209873.4:p.Glu101Ter
ENST00000394384.7:c.301G>T	ENSP00000377908.3:p.Glu101Ter
ENST00000546393.7:n.399G>T
ENST00000546562.5:n.318G>T
ENST00000546562.6:n.318G>T
ENST00000547238.5:n.694G>T
ENST00000547238.6:n.743G>T
ENST00000547520.6:n.235G>T
ENST00000547757.1:c.301G>T	ENSP00000448020.1:p.Glu101Ter
ENST00000547757.2:c.-552G>T	ENSP00000448020.2:n.-552G>T
ENST00000547761.6:n.285G>T
ENST00000548258.5:n.329G>T
ENST00000548880.1:n.396G>T
ENST00000548880.2:n.451G>T
ENST00000549450.5:n.235G>T
ENST00000549450.6:n.235G>T
ENST00000549821.5:n.299G>T
ENST00000549983.5:n.324G>T
ENST00000550286.5:c.21G>T	ENSP00000446885.1:p.Lys7Asn
ENST00000551724.5:n.351G>T
ENST00000552161.5:n.396G>T
ENST00000552161.6:n.763G>T
ENST00000552876.5:n.743G>T
ENST00000672797.1:n.754G>T
ENST00000672900.1:n.52G>T
XM_006719617.2:c.316G>T	XP_006719680.1:p.Glu106Ter
XM_006719619.2:c.316G>T	XP_006719682.1:p.Glu106Ter
XM_011538777.1:c.316G>T	XP_011537079.1:p.Glu106Ter
XM_011538778.1:c.301G>T	XP_011537080.1:p.Glu101Ter
XM_011538778.2:c.301G>T	XP_011537080.1:p.Glu101Ter
XM_011538779.1:c.316G>T	XP_011537081.1:p.Glu106Ter
XM_011538780.1:c.301G>T	XP_011537082.1:p.Glu101Ter
XM_011538780.2:c.301G>T	XP_011537082.1:p.Glu101Ter
XR_001748875.2:n.421G>T