Canonical Allele Identifier: CA2036910131

Gene: AAAS

Linked Data

• dbSNP Id: rs1944337966

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308808dup , CM000674.2:g.53308808dup	GRCh38
NC_000012.11:g.53702592dup , CM000674.1:g.53702592dup	GRCh37
NC_000012.10:g.51988859dup	NCBI36
NG_016775.1:g.17821dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1004dup MANE Select	ENSP00000209873.4:p.Cys335TrpfsTer30
ENST00000546393.7:n.1849dup
ENST00000546562.6:n.2068dup
ENST00000547238.6:n.1640dup
ENST00000547520.6:n.998dup
ENST00000547757.2:c.53dup	ENSP00000448020.2:p.Cys18TrpfsTer30
ENST00000548880.2:n.1454dup
ENST00000548931.6:c.524dup	ENSP00000457518.1:p.Cys175TrpfsTer30
ENST00000549450.6:n.938dup
ENST00000552161.6:n.1960dup
ENST00000672797.1:n.1493dup
ENST00000672900.1:n.1946dup
ENST00000209873.8:c.1004dup	ENSP00000209873.4:p.Cys335TrpfsTer30
ENST00000394384.7:c.905dup	ENSP00000377908.3:p.Cys302TrpfsTer30
ENST00000547520.5:n.708dup
ENST00000548931.5:c.524dup	ENSP00000457518.1:p.Cys175TrpfsTer30
ENST00000550033.5:n.259dup
ENST00000550286.5:c.632dup	ENSP00000446885.1:p.Cys211TrpfsTer30
ENST00000552876.5:n.1347dup
NM_001173466.1:c.905dup	NP_001166937.1:p.Cys302TrpfsTer30
NM_015665.5:c.1004dup	NP_056480.1:p.Cys335TrpfsTer30
XM_006719617.2:c.1019dup	XP_006719680.1:p.Cys340TrpfsTer30
XM_006719619.2:c.*14dup	XP_006719682.1:n.*14dup
XM_011538777.1:c.1019dup	XP_011537079.1:p.Cys340TrpfsTer30
XM_011538778.1:c.1004dup	XP_011537080.1:p.Cys335TrpfsTer30
XM_011538779.1:c.920dup	XP_011537081.1:p.Cys307TrpfsTer30
XM_011538780.1:c.905dup	XP_011537082.1:p.Cys302TrpfsTer30
XM_011538781.1:c.353dup	XP_011537083.1:p.Cys118TrpfsTer30
XM_011538778.2:c.1004dup	XP_011537080.1:p.Cys335TrpfsTer30
XM_011538780.2:c.905dup	XP_011537082.1:p.Cys302TrpfsTer30
XR_001748875.2:n.1061dup
NM_015665.6:c.1004dup MANE Select	NP_056480.1:p.Cys335TrpfsTer30
NM_001173466.2:c.905dup	NP_001166937.1:p.Cys302TrpfsTer30