Canonical Allele Identifier: CA385044592

Gene: AAAS

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53315782C>T , CM000674.2:g.53315782C>T	GRCh38
NC_000012.11:g.53709566C>T , CM000674.1:g.53709566C>T	GRCh37
NC_000012.10:g.51995833C>T	NCBI36
NG_016775.1:g.10847G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.252G>A MANE Select	ENSP00000209873.4:p.Trp84Ter
ENST00000546393.7:n.350G>A
ENST00000546562.6:n.269G>A
ENST00000547238.6:n.694G>A
ENST00000547520.6:n.186G>A
ENST00000547757.2:c.-601G>A	ENSP00000448020.2:n.-601G>A
ENST00000548880.2:n.402G>A
ENST00000549450.6:n.186G>A
ENST00000552161.6:n.714G>A
ENST00000672797.1:n.705G>A
ENST00000672900.1:n.3G>A
ENST00000209873.8:c.252G>A	ENSP00000209873.4:p.Trp84Ter
ENST00000394384.7:c.252G>A	ENSP00000377908.3:p.Trp84Ter
ENST00000546562.5:n.269G>A
ENST00000547238.5:n.645G>A
ENST00000547757.1:c.252G>A	ENSP00000448020.1:p.Trp84Ter
ENST00000547761.6:n.236G>A
ENST00000548258.5:n.280G>A
ENST00000548880.1:n.347G>A
ENST00000549450.5:n.186G>A
ENST00000549821.5:n.250G>A
ENST00000549983.5:n.275G>A
ENST00000550286.5:c.-29G>A	ENSP00000446885.1:n.-29G>A
ENST00000551724.5:n.302G>A
ENST00000552161.5:n.347G>A
ENST00000552876.5:n.694G>A
NM_001173466.1:c.252G>A	NP_001166937.1:p.Trp84Ter
NM_015665.5:c.252G>A	NP_056480.1:p.Trp84Ter
XM_006719617.2:c.267G>A	XP_006719680.1:p.Trp89Ter
XM_006719619.2:c.267G>A	XP_006719682.1:p.Trp89Ter
XM_011538777.1:c.267G>A	XP_011537079.1:p.Trp89Ter
XM_011538778.1:c.252G>A	XP_011537080.1:p.Trp84Ter
XM_011538779.1:c.267G>A	XP_011537081.1:p.Trp89Ter
XM_011538780.1:c.252G>A	XP_011537082.1:p.Trp84Ter
XM_011538778.2:c.252G>A	XP_011537080.1:p.Trp84Ter
XM_011538780.2:c.252G>A	XP_011537082.1:p.Trp84Ter
XR_001748875.2:n.372G>A
NM_015665.6:c.252G>A MANE Select	NP_056480.1:p.Trp84Ter
NM_001173466.2:c.252G>A	NP_001166937.1:p.Trp84Ter