Canonical Allele Identifier: CA385044169

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53315334C>T , CM000674.2:g.53315334C>T	GRCh38
NC_000012.11:g.53709118C>T , CM000674.1:g.53709118C>T	GRCh37
NC_000012.10:g.51995385C>T	NCBI36
NG_016775.1:g.11295G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.399+1G>A MANE Select	NP_056480.1:n.399+1G>A
ENST00000209873.9:c.399+1G>A MANE Select	ENSP00000209873.4:n.399+1G>A
NM_001173466.1:c.399+1G>A	NP_001166937.1:n.399+1G>A
NM_001173466.2:c.399+1G>A	NP_001166937.1:n.399+1G>A
NM_015665.5:c.399+1G>A	NP_056480.1:n.399+1G>A
ENST00000209873.8:c.399+1G>A	ENSP00000209873.4:n.399+1G>A
ENST00000394384.7:c.399+1G>A	ENSP00000377908.3:n.399+1G>A
ENST00000546393.7:n.498G>A
ENST00000546562.6:n.717G>A
ENST00000547238.5:n.792+1G>A
ENST00000547238.6:n.842G>A
ENST00000547520.6:n.393+1G>A
ENST00000547757.1:c.399+1G>A	ENSP00000448020.1:n.399+1G>A
ENST00000547757.2:c.-454+1G>A	ENSP00000448020.2:n.-454+1G>A
ENST00000547761.6:n.292-194G>A
ENST00000548258.5:n.427+1G>A
ENST00000548880.2:n.849+1G>A
ENST00000549450.5:n.393+1G>A
ENST00000549450.6:n.333+1G>A
ENST00000549821.5:n.397+1G>A
ENST00000549983.5:n.422+1G>A
ENST00000550286.5:c.28-194G>A	ENSP00000446885.1:n.28-194G>A
ENST00000551724.5:n.449+1G>A
ENST00000552161.5:n.495G>A
ENST00000552161.6:n.1162G>A
ENST00000552876.5:n.841+1G>A
ENST00000672797.1:n.852+1G>A
ENST00000672900.1:n.451G>A
XM_006719617.2:c.414+1G>A	XP_006719680.1:n.414+1G>A
XM_006719619.2:c.414+1G>A	XP_006719682.1:n.414+1G>A
XM_011538777.1:c.414+1G>A	XP_011537079.1:n.414+1G>A
XM_011538778.1:c.399+1G>A	XP_011537080.1:n.399+1G>A
XM_011538778.2:c.399+1G>A	XP_011537080.1:n.399+1G>A
XM_011538779.1:c.414+1G>A	XP_011537081.1:n.414+1G>A
XM_011538780.1:c.399+1G>A	XP_011537082.1:n.399+1G>A
XM_011538780.2:c.399+1G>A	XP_011537082.1:n.399+1G>A
XR_001748875.2:n.519+1G>A