Canonical Allele Identifier: CA2619037143

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307647-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307651dup , CM000674.2:g.53307651dup	GRCh38
NC_000012.11:g.53701435dup , CM000674.1:g.53701435dup	GRCh37
NC_000012.10:g.51987702dup	NCBI36
NG_016775.1:g.18981dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1482dup MANE Select	ENSP00000209873.4:p.Ser495Ter
ENST00000546562.6:n.2546dup
ENST00000547238.6:n.2118dup
ENST00000547520.6:n.1598dup
ENST00000547757.2:c.*400dup	ENSP00000448020.2:n.*400dup
ENST00000548880.2:n.1932dup
ENST00000548931.6:c.917dup	ENSP00000457518.1:p.Leu306PhefsTer?
ENST00000549450.6:n.1416dup
ENST00000552161.6:n.2560dup
ENST00000672797.1:n.1971dup
ENST00000209873.8:c.1482dup	ENSP00000209873.4:p.Ser495Ter
ENST00000394384.7:c.1383dup	ENSP00000377908.3:p.Ser462Ter
ENST00000548931.5:c.917dup	ENSP00000457518.1:p.Leu306PhefsTer?
ENST00000550286.5:c.1110dup	ENSP00000446885.1:p.Ser371Ter
ENST00000552876.5:n.1825dup
NM_001173466.1:c.1383dup	NP_001166937.1:p.Ser462Ter
NM_015665.5:c.1482dup	NP_056480.1:p.Ser495Ter
XM_006719617.2:c.1497dup	XP_006719680.1:p.Ser500Ter
XM_011538777.1:c.1539dup	XP_011537079.1:p.Ser514Ter
XM_011538778.1:c.1524dup	XP_011537080.1:p.Ser509Ter
XM_011538779.1:c.1440dup	XP_011537081.1:p.Ser481Ter
XM_011538780.1:c.1425dup	XP_011537082.1:p.Ser476Ter
XM_011538781.1:c.873dup	XP_011537083.1:p.Ser292Ter
XM_011538778.2:c.1524dup	XP_011537080.1:p.Ser509Ter
XM_011538780.2:c.1425dup	XP_011537082.1:p.Ser476Ter
XR_001748875.2:n.1539dup
NM_015665.6:c.1482dup MANE Select	NP_056480.1:p.Ser495Ter
NM_001173466.2:c.1383dup	NP_001166937.1:p.Ser462Ter