Canonical Allele Identifier: CA16042909

Gene: AAAS

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53314796G>T , CM000674.2:g.53314796G>T	GRCh38
NC_000012.11:g.53708580G>T , CM000674.1:g.53708580G>T	GRCh37
NC_000012.10:g.51994847G>T	NCBI36
NG_016775.1:g.11833C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.500C>A MANE Select	ENSP00000209873.4:p.Ala167Glu
ENST00000546393.7:n.1036C>A
ENST00000546562.6:n.1255C>A
ENST00000547238.6:n.1136C>A
ENST00000547520.6:n.494C>A
ENST00000547757.2:c.-407+298C>A	ENSP00000448020.2:n.-407+298C>A
ENST00000548880.2:n.950C>A
ENST00000548931.6:c.20C>A	ENSP00000457518.1:p.Ala7Glu
ENST00000549450.6:n.434C>A
ENST00000552161.6:n.1456C>A
ENST00000672797.1:n.953C>A
ENST00000672900.1:n.989C>A
ENST00000209873.8:c.500C>A	ENSP00000209873.4:p.Ala167Glu
ENST00000394384.7:c.446+298C>A	ENSP00000377908.3:n.446+298C>A
ENST00000546393.6:n.88C>A
ENST00000547238.5:n.893C>A
ENST00000547520.5:n.204C>A
ENST00000547757.1:c.446+298C>A	ENSP00000448020.1:n.446+298C>A
ENST00000547761.6:n.392C>A
ENST00000548258.5:n.528C>A
ENST00000548931.5:c.20C>A	ENSP00000457518.1:p.Ala7Glu
ENST00000549450.5:n.494C>A
ENST00000549821.5:n.498C>A
ENST00000549983.5:n.523C>A
ENST00000550286.5:c.128C>A	ENSP00000446885.1:p.Ala43Glu
ENST00000551724.5:n.550C>A
ENST00000552876.5:n.888+298C>A
NM_001173466.1:c.446+298C>A	NP_001166937.1:n.446+298C>A
NM_015665.5:c.500C>A	NP_056480.1:p.Ala167Glu
XM_006719617.2:c.515C>A	XP_006719680.1:p.Ala172Glu
XM_006719619.2:c.515C>A	XP_006719682.1:p.Ala172Glu
XM_011538777.1:c.515C>A	XP_011537079.1:p.Ala172Glu
XM_011538778.1:c.500C>A	XP_011537080.1:p.Ala167Glu
XM_011538779.1:c.461+298C>A	XP_011537081.1:n.461+298C>A
XM_011538780.1:c.446+298C>A	XP_011537082.1:n.446+298C>A
XM_011538778.2:c.500C>A	XP_011537080.1:p.Ala167Glu
XM_011538780.2:c.446+298C>A	XP_011537082.1:n.446+298C>A
XR_001748875.2:n.566+298C>A
NM_015665.6:c.500C>A MANE Select	NP_056480.1:p.Ala167Glu
NM_001173466.2:c.446+298C>A	NP_001166937.1:n.446+298C>A