Canonical Allele Identifier: CA385047419

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53321403G>T , CM000674.2:g.53321403G>T	GRCh38
NC_000012.11:g.53715187G>T , CM000674.1:g.53715187G>T	GRCh37
NC_000012.10:g.52001454G>T	NCBI36
NG_016775.1:g.5226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.63C>A MANE Select	ENSP00000209873.4:p.His21Gln
ENST00000546393.7:n.161C>A
ENST00000546562.6:n.140+68C>A
ENST00000548880.2:n.213C>A
ENST00000209873.8:c.63C>A	ENSP00000209873.4:p.His21Gln
ENST00000394384.7:c.63C>A	ENSP00000377908.3:p.His21Gln
ENST00000546562.5:n.140+68C>A
ENST00000547757.1:c.63C>A	ENSP00000448020.1:p.His21Gln
ENST00000547761.6:n.107+474C>A
ENST00000548258.5:n.152-711C>A
ENST00000548880.1:n.158C>A
ENST00000549821.5:n.121+474C>A
ENST00000549983.5:n.146+68C>A
ENST00000550286.5:c.-157-711C>A	ENSP00000446885.1:n.-157-711C>A
ENST00000551724.5:n.174-711C>A
ENST00000552161.5:n.158C>A
NM_001173466.1:c.63C>A	NP_001166937.1:p.His21Gln
NM_015665.5:c.63C>A	NP_056480.1:p.His21Gln
XM_011538778.1:c.63C>A	XP_011537080.1:p.His21Gln
XM_011538780.1:c.63C>A	XP_011537082.1:p.His21Gln
XM_011538778.2:c.63C>A	XP_011537080.1:p.His21Gln
XM_011538780.2:c.63C>A	XP_011537082.1:p.His21Gln
XR_001748875.2:n.183C>A
NM_015665.6:c.63C>A MANE Select	NP_056480.1:p.His21Gln
NM_001173466.2:c.63C>A	NP_001166937.1:p.His21Gln