Canonical Allele Identifier: CA689916370

Gene: AAAS

Linked Data

• dbSNP Id: rs1205566242
• MyVariant Identifiers: chr12:g.53701338del (hg19) ; chr12:g.53307554del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307554del , CM000674.2:g.53307554del	GRCh38
NC_000012.11:g.53701338del , CM000674.1:g.53701338del	GRCh37
NC_000012.10:g.51987605del	NCBI36
NG_016775.1:g.19075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1576del MANE Select	ENSP00000209873.4:p.Ala526ProfsTer25
ENST00000546562.6:n.2640del
ENST00000547238.6:n.2212del
ENST00000547520.6:n.1692del
ENST00000547757.2:c.*494del	ENSP00000448020.2:n.*494del
ENST00000548931.6:c.1011del	ENSP00000457518.1:p.Thr341ProfsTer?
ENST00000549450.6:n.1510del
ENST00000672797.1:n.2065del
ENST00000209873.8:c.1576del	ENSP00000209873.4:p.Ala526ProfsTer25
ENST00000394384.7:c.1477del	ENSP00000377908.3:p.Ala493ProfsTer25
ENST00000548931.5:c.1011del	ENSP00000457518.1:p.Thr341ProfsTer?
ENST00000550286.5:c.1204del	ENSP00000446885.1:p.Ala402ProfsTer25
ENST00000552876.5:n.1919del
NM_001173466.1:c.1477del	NP_001166937.1:p.Ala493ProfsTer25
NM_015665.5:c.1576del	NP_056480.1:p.Ala526ProfsTer25
XM_006719617.2:c.1591del	XP_006719680.1:p.Ala531ProfsTer25
XM_011538777.1:c.1633del	XP_011537079.1:p.Ala545ProfsTer25
XM_011538778.1:c.1618del	XP_011537080.1:p.Ala540ProfsTer25
XM_011538779.1:c.1534del	XP_011537081.1:p.Ala512ProfsTer25
XM_011538780.1:c.1519del	XP_011537082.1:p.Ala507ProfsTer25
XM_011538781.1:c.967del	XP_011537083.1:p.Ala323ProfsTer25
XM_011538778.2:c.1618del	XP_011537080.1:p.Ala540ProfsTer25
XM_011538780.2:c.1519del	XP_011537082.1:p.Ala507ProfsTer25
XR_001748875.2:n.1633del
NM_015665.6:c.1576del MANE Select	NP_056480.1:p.Ala526ProfsTer25
NM_001173466.2:c.1477del	NP_001166937.1:p.Ala493ProfsTer25