Canonical Allele Identifier: CA6599263

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53315407C>T , CM000674.2:g.53315407C>T	GRCh38
NC_000012.11:g.53709191C>T , CM000674.1:g.53709191C>T	GRCh37
NC_000012.10:g.51995458C>T	NCBI36
NG_016775.1:g.11222G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.327G>A MANE Select	NP_056480.1:p.Thr109=
ENST00000209873.9:c.327G>A MANE Select	ENSP00000209873.4:p.Thr109=
NM_001173466.1:c.327G>A	NP_001166937.1:p.Thr109=
NM_001173466.2:c.327G>A	NP_001166937.1:p.Thr109=
NM_015665.5:c.327G>A	NP_056480.1:p.Thr109=
ENST00000209873.8:c.327G>A	ENSP00000209873.4:p.Thr109=
ENST00000394384.7:c.327G>A	ENSP00000377908.3:p.Thr109=
ENST00000546393.7:n.425G>A
ENST00000546562.6:n.644G>A
ENST00000547238.5:n.720G>A
ENST00000547238.6:n.769G>A
ENST00000547520.6:n.321G>A
ENST00000547757.1:c.327G>A	ENSP00000448020.1:p.Thr109=
ENST00000547757.2:c.-526G>A	ENSP00000448020.2:n.-526G>A
ENST00000547761.6:n.292-267G>A
ENST00000548258.5:n.355G>A
ENST00000548880.2:n.777G>A
ENST00000549450.5:n.321G>A
ENST00000549450.6:n.261G>A
ENST00000549821.5:n.325G>A
ENST00000549983.5:n.350G>A
ENST00000550286.5:c.28-267G>A	ENSP00000446885.1:n.28-267G>A
ENST00000551724.5:n.377G>A
ENST00000552161.5:n.422G>A
ENST00000552161.6:n.1089G>A
ENST00000552876.5:n.769G>A
ENST00000672797.1:n.780G>A
ENST00000672900.1:n.378G>A
XM_006719617.2:c.342G>A	XP_006719680.1:p.Thr114=
XM_006719619.2:c.342G>A	XP_006719682.1:p.Thr114=
XM_011538777.1:c.342G>A	XP_011537079.1:p.Thr114=
XM_011538778.1:c.327G>A	XP_011537080.1:p.Thr109=
XM_011538778.2:c.327G>A	XP_011537080.1:p.Thr109=
XM_011538779.1:c.342G>A	XP_011537081.1:p.Thr114=
XM_011538780.1:c.327G>A	XP_011537082.1:p.Thr109=
XM_011538780.2:c.327G>A	XP_011537082.1:p.Thr109=
XR_001748875.2:n.447G>A