Canonical Allele Identifier: CA385044106

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53315142T>C , CM000674.2:g.53315142T>C	GRCh38
NC_000012.11:g.53708926T>C , CM000674.1:g.53708926T>C	GRCh37
NC_000012.10:g.51995193T>C	NCBI36
NG_016775.1:g.11487A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.400-2A>G MANE Select	NP_056480.1:n.400-2A>G
ENST00000209873.9:c.400-2A>G MANE Select	ENSP00000209873.4:n.400-2A>G
NM_001173466.1:c.400-2A>G	NP_001166937.1:n.400-2A>G
NM_001173466.2:c.400-2A>G	NP_001166937.1:n.400-2A>G
NM_015665.5:c.400-2A>G	NP_056480.1:n.400-2A>G
ENST00000209873.8:c.400-2A>G	ENSP00000209873.4:n.400-2A>G
ENST00000394384.7:c.400-2A>G	ENSP00000377908.3:n.400-2A>G
ENST00000546393.7:n.690A>G
ENST00000546562.6:n.909A>G
ENST00000547238.5:n.793-2A>G
ENST00000547238.6:n.1034A>G
ENST00000547520.5:n.102A>G
ENST00000547520.6:n.394-2A>G
ENST00000547757.1:c.400-2A>G	ENSP00000448020.1:n.400-2A>G
ENST00000547757.2:c.-453-2A>G	ENSP00000448020.2:n.-453-2A>G
ENST00000547761.6:n.292-2A>G
ENST00000548258.5:n.428-2A>G
ENST00000548880.2:n.850-2A>G
ENST00000549450.5:n.394-2A>G
ENST00000549450.6:n.334-2A>G
ENST00000549821.5:n.398-2A>G
ENST00000549983.5:n.423-2A>G
ENST00000550286.5:c.28-2A>G	ENSP00000446885.1:n.28-2A>G
ENST00000551724.5:n.450-2A>G
ENST00000552161.6:n.1354A>G
ENST00000552876.5:n.842-2A>G
ENST00000672797.1:n.853-2A>G
ENST00000672900.1:n.643A>G
XM_006719617.2:c.415-2A>G	XP_006719680.1:n.415-2A>G
XM_006719619.2:c.415-2A>G	XP_006719682.1:n.415-2A>G
XM_011538777.1:c.415-2A>G	XP_011537079.1:n.415-2A>G
XM_011538778.1:c.400-2A>G	XP_011537080.1:n.400-2A>G
XM_011538778.2:c.400-2A>G	XP_011537080.1:n.400-2A>G
XM_011538779.1:c.415-2A>G	XP_011537081.1:n.415-2A>G
XM_011538780.1:c.400-2A>G	XP_011537082.1:n.400-2A>G
XM_011538780.2:c.400-2A>G	XP_011537082.1:n.400-2A>G
XR_001748875.2:n.520-2A>G