Canonical Allele Identifier: CA6599048

Gene: AAAS

Linked Data

• dbSNP Id: rs770621532
• ExAC: 12:53702890 T / TA
• gnomAD v2: 12-53702890-T-TA
• gnomAD v4: 12-53309106-T-TA
• MyVariant Identifiers: chr12:g.53702890_53702891insA (hg19) ; chr12:g.53309106_53309107insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309108dup , CM000674.2:g.53309108dup	GRCh38
NC_000012.11:g.53702892dup , CM000674.1:g.53702892dup	GRCh37
NC_000012.10:g.51989159dup	NCBI36
NG_016775.1:g.17522dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.935+50dup MANE Select	ENSP00000209873.4:n.935+50dup
ENST00000546393.7:n.1780+50dup
ENST00000546562.6:n.1999+50dup
ENST00000547238.6:n.1571+50dup
ENST00000547520.6:n.929+50dup
ENST00000547757.2:c.-17+50dup	ENSP00000448020.2:n.-17+50dup
ENST00000548880.2:n.1385+50dup
ENST00000548931.6:c.455+50dup	ENSP00000457518.1:n.455+50dup
ENST00000549450.6:n.869+50dup
ENST00000552161.6:n.1891+50dup
ENST00000672797.1:n.1388+50dup
ENST00000672900.1:n.1733+50dup
ENST00000209873.8:c.935+50dup	ENSP00000209873.4:n.935+50dup
ENST00000394384.7:c.836+50dup	ENSP00000377908.3:n.836+50dup
ENST00000546572.1:n.437dup
ENST00000547520.5:n.639+50dup
ENST00000548931.5:c.455+50dup	ENSP00000457518.1:n.455+50dup
ENST00000550033.5:n.190+50dup
ENST00000550286.5:c.563+50dup	ENSP00000446885.1:n.563+50dup
ENST00000552876.5:n.1278+50dup
NM_001173466.1:c.836+50dup	NP_001166937.1:n.836+50dup
NM_015665.5:c.935+50dup	NP_056480.1:n.935+50dup
XM_006719617.2:c.950+50dup	XP_006719680.1:n.950+50dup
XM_006719619.2:c.950+50dup	XP_006719682.1:n.950+50dup
XM_011538777.1:c.950+50dup	XP_011537079.1:n.950+50dup
XM_011538778.1:c.935+50dup	XP_011537080.1:n.935+50dup
XM_011538779.1:c.851+50dup	XP_011537081.1:n.851+50dup
XM_011538780.1:c.836+50dup	XP_011537082.1:n.836+50dup
XM_011538781.1:c.284+50dup	XP_011537083.1:n.284+50dup
XM_011538778.2:c.935+50dup	XP_011537080.1:n.935+50dup
XM_011538780.2:c.836+50dup	XP_011537082.1:n.836+50dup
XR_001748875.2:n.956+50dup
NM_015665.6:c.935+50dup MANE Select	NP_056480.1:n.935+50dup
NM_001173466.2:c.836+50dup	NP_001166937.1:n.836+50dup