Canonical Allele Identifier: CA2036910150

Gene: AAAS

Linked Data

• dbSNP Id: rs760456385
• gnomAD v4: 12-53308845-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308845G>A , CM000674.2:g.53308845G>A	GRCh38
NC_000012.11:g.53702629G>A , CM000674.1:g.53702629G>A	GRCh37
NC_000012.10:g.51988896G>A	NCBI36
NG_016775.1:g.17784C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.997-30C>T MANE Select	ENSP00000209873.4:n.997-30C>T
ENST00000546393.7:n.1842-30C>T
ENST00000546562.6:n.2061-30C>T
ENST00000547238.6:n.1633-30C>T
ENST00000547520.6:n.991-30C>T
ENST00000547757.2:c.46-30C>T	ENSP00000448020.2:n.46-30C>T
ENST00000548880.2:n.1447-30C>T
ENST00000548931.6:c.517-30C>T	ENSP00000457518.1:n.517-30C>T
ENST00000549450.6:n.931-30C>T
ENST00000552161.6:n.1953-30C>T
ENST00000672797.1:n.1456C>T
ENST00000672900.1:n.1909C>T
ENST00000209873.8:c.997-30C>T	ENSP00000209873.4:n.997-30C>T
ENST00000394384.7:c.898-30C>T	ENSP00000377908.3:n.898-30C>T
ENST00000547520.5:n.701-30C>T
ENST00000548931.5:c.517-30C>T	ENSP00000457518.1:n.517-30C>T
ENST00000550033.5:n.252-30C>T
ENST00000550286.5:c.625-30C>T	ENSP00000446885.1:n.625-30C>T
ENST00000552876.5:n.1340-30C>T
NM_001173466.1:c.898-30C>T	NP_001166937.1:n.898-30C>T
NM_015665.5:c.997-30C>T	NP_056480.1:n.997-30C>T
XM_006719617.2:c.1012-30C>T	XP_006719680.1:n.1012-30C>T
XM_006719619.2:c.1018C>T	XP_006719682.1:p.Leu340Phe
XM_011538777.1:c.1012-30C>T	XP_011537079.1:n.1012-30C>T
XM_011538778.1:c.997-30C>T	XP_011537080.1:n.997-30C>T
XM_011538779.1:c.913-30C>T	XP_011537081.1:n.913-30C>T
XM_011538780.1:c.898-30C>T	XP_011537082.1:n.898-30C>T
XM_011538781.1:c.346-30C>T	XP_011537083.1:n.346-30C>T
XM_011538778.2:c.997-30C>T	XP_011537080.1:n.997-30C>T
XM_011538780.2:c.898-30C>T	XP_011537082.1:n.898-30C>T
XR_001748875.2:n.1024C>T
NM_015665.6:c.997-30C>T MANE Select	NP_056480.1:n.997-30C>T
NM_001173466.2:c.898-30C>T	NP_001166937.1:n.898-30C>T