Canonical Allele Identifier: CA2619036969

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307557-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307559dup , CM000674.2:g.53307559dup	GRCh38
NC_000012.11:g.53701343dup , CM000674.1:g.53701343dup	GRCh37
NC_000012.10:g.51987610dup	NCBI36
NG_016775.1:g.19071dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1572dup MANE Select	ENSP00000209873.4:p.Ser525LeufsTer?
ENST00000546562.6:n.2636dup
ENST00000547238.6:n.2208dup
ENST00000547520.6:n.1688dup
ENST00000547757.2:c.*490dup	ENSP00000448020.2:n.*490dup
ENST00000548931.6:c.1007dup	ENSP00000457518.1:p.Leu337SerfsTer23
ENST00000549450.6:n.1506dup
ENST00000672797.1:n.2061dup
ENST00000209873.8:c.1572dup	ENSP00000209873.4:p.Ser525LeufsTer?
ENST00000394384.7:c.1473dup	ENSP00000377908.3:p.Ser492LeufsTer?
ENST00000548931.5:c.1007dup	ENSP00000457518.1:p.Leu337SerfsTer?
ENST00000550286.5:c.1200dup	ENSP00000446885.1:p.Ser401LeufsTer?
ENST00000552876.5:n.1915dup
NM_001173466.1:c.1473dup	NP_001166937.1:p.Ser492LeufsTer?
NM_015665.5:c.1572dup	NP_056480.1:p.Ser525LeufsTer?
XM_006719617.2:c.1587dup	XP_006719680.1:p.Ser530LeufsTer?
XM_011538777.1:c.1629dup	XP_011537079.1:p.Ser544LeufsTer?
XM_011538778.1:c.1614dup	XP_011537080.1:p.Ser539LeufsTer?
XM_011538779.1:c.1530dup	XP_011537081.1:p.Ser511LeufsTer?
XM_011538780.1:c.1515dup	XP_011537082.1:p.Ser506LeufsTer?
XM_011538781.1:c.963dup	XP_011537083.1:p.Ser322LeufsTer?
XM_011538778.2:c.1614dup	XP_011537080.1:p.Ser539LeufsTer?
XM_011538780.2:c.1515dup	XP_011537082.1:p.Ser506LeufsTer?
XR_001748875.2:n.1629dup
NM_015665.6:c.1572dup MANE Select	NP_056480.1:p.Ser525LeufsTer?
NM_001173466.2:c.1473dup	NP_001166937.1:p.Ser492LeufsTer?