Canonical Allele Identifier: CA6599272

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53315714G>A , CM000674.2:g.53315714G>A	GRCh38
NC_000012.11:g.53709498G>A , CM000674.1:g.53709498G>A	GRCh37
NC_000012.10:g.51995765G>A	NCBI36
NG_016775.1:g.10915C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.307+13C>T MANE Select	NP_056480.1:n.307+13C>T
ENST00000209873.9:c.307+13C>T MANE Select	ENSP00000209873.4:n.307+13C>T
NM_001173466.1:c.307+13C>T	NP_001166937.1:n.307+13C>T
NM_001173466.2:c.307+13C>T	NP_001166937.1:n.307+13C>T
NM_015665.5:c.307+13C>T	NP_056480.1:n.307+13C>T
ENST00000209873.8:c.307+13C>T	ENSP00000209873.4:n.307+13C>T
ENST00000394384.7:c.307+13C>T	ENSP00000377908.3:n.307+13C>T
ENST00000546393.7:n.405+13C>T
ENST00000546562.5:n.337C>T
ENST00000546562.6:n.337C>T
ENST00000547238.5:n.700+13C>T
ENST00000547238.6:n.749+13C>T
ENST00000547520.6:n.241+13C>T
ENST00000547757.1:c.307+13C>T	ENSP00000448020.1:n.307+13C>T
ENST00000547757.2:c.-546+13C>T	ENSP00000448020.2:n.-546+13C>T
ENST00000547761.6:n.291+13C>T
ENST00000548258.5:n.335+13C>T
ENST00000548880.1:n.415C>T
ENST00000548880.2:n.470C>T
ENST00000549450.5:n.241+13C>T
ENST00000549450.6:n.241+13C>T
ENST00000549821.5:n.305+13C>T
ENST00000549983.5:n.330+13C>T
ENST00000550286.5:c.27+13C>T	ENSP00000446885.1:n.27+13C>T
ENST00000551724.5:n.357+13C>T
ENST00000552161.5:n.402+13C>T
ENST00000552161.6:n.782C>T
ENST00000552876.5:n.749+13C>T
ENST00000672797.1:n.760+13C>T
ENST00000672900.1:n.71C>T
XM_006719617.2:c.322+13C>T	XP_006719680.1:n.322+13C>T
XM_006719619.2:c.322+13C>T	XP_006719682.1:n.322+13C>T
XM_011538777.1:c.322+13C>T	XP_011537079.1:n.322+13C>T
XM_011538778.1:c.307+13C>T	XP_011537080.1:n.307+13C>T
XM_011538778.2:c.307+13C>T	XP_011537080.1:n.307+13C>T
XM_011538779.1:c.322+13C>T	XP_011537081.1:n.322+13C>T
XM_011538780.1:c.307+13C>T	XP_011537082.1:n.307+13C>T
XM_011538780.2:c.307+13C>T	XP_011537082.1:n.307+13C>T
XR_001748875.2:n.427+13C>T