Canonical Allele Identifier: CA689916294

Gene: AAAS

Linked Data

• dbSNP Id: rs1464124970
• MyVariant Identifiers: chr12:g.53701296del (hg19) ; chr12:g.53307512del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307515del , CM000674.2:g.53307515del	GRCh38
NC_000012.11:g.53701299del , CM000674.1:g.53701299del	GRCh37
NC_000012.10:g.51987566del	NCBI36
NG_016775.1:g.19117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1618del MANE Select	ENSP00000209873.4:p.His540ThrfsTer11
ENST00000546562.6:n.2682del
ENST00000547757.2:c.*536del	ENSP00000448020.2:n.*536del
ENST00000548931.6:c.1053del	ENSP00000457518.1:p.Thr352LeufsTer?
ENST00000549450.6:n.1552del
ENST00000209873.8:c.1618del	ENSP00000209873.4:p.His540ThrfsTer11
ENST00000394384.7:c.1519del	ENSP00000377908.3:p.His507ThrfsTer11
ENST00000548931.5:c.1053del	ENSP00000457518.1:p.Thr352LeufsTer?
ENST00000550286.5:c.1246del	ENSP00000446885.1:p.His416ThrfsTer11
ENST00000552876.5:n.1961del
NM_001173466.1:c.1519del	NP_001166937.1:p.His507ThrfsTer11
NM_015665.5:c.1618del	NP_056480.1:p.His540ThrfsTer11
XM_006719617.2:c.1633del	XP_006719680.1:p.His545ThrfsTer11
XM_011538777.1:c.1675del	XP_011537079.1:p.His559ThrfsTer11
XM_011538778.1:c.1660del	XP_011537080.1:p.His554ThrfsTer11
XM_011538779.1:c.1576del	XP_011537081.1:p.His526ThrfsTer11
XM_011538780.1:c.1561del	XP_011537082.1:p.His521ThrfsTer11
XM_011538781.1:c.1009del	XP_011537083.1:p.His337ThrfsTer11
XM_011538778.2:c.1660del	XP_011537080.1:p.His554ThrfsTer11
XM_011538780.2:c.1561del	XP_011537082.1:p.His521ThrfsTer11
XR_001748875.2:n.1675del
NM_015665.6:c.1618del MANE Select	NP_056480.1:p.His540ThrfsTer11
NM_001173466.2:c.1519del	NP_001166937.1:p.His507ThrfsTer11