Canonical Allele Identifier: CA2619037702

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308860-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308860G>T , CM000674.2:g.53308860G>T	GRCh38
NC_000012.11:g.53702644G>T , CM000674.1:g.53702644G>T	GRCh37
NC_000012.10:g.51988911G>T	NCBI36
NG_016775.1:g.17769C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.997-45C>A MANE Select	ENSP00000209873.4:n.997-45C>A
ENST00000546393.7:n.1842-45C>A
ENST00000546562.6:n.2061-45C>A
ENST00000547238.6:n.1633-45C>A
ENST00000547520.6:n.991-45C>A
ENST00000547757.2:c.46-45C>A	ENSP00000448020.2:n.46-45C>A
ENST00000548880.2:n.1447-45C>A
ENST00000548931.6:c.517-45C>A	ENSP00000457518.1:n.517-45C>A
ENST00000549450.6:n.931-45C>A
ENST00000552161.6:n.1953-45C>A
ENST00000672797.1:n.1450-9C>A
ENST00000672900.1:n.1894C>A
ENST00000209873.8:c.997-45C>A	ENSP00000209873.4:n.997-45C>A
ENST00000394384.7:c.898-45C>A	ENSP00000377908.3:n.898-45C>A
ENST00000547520.5:n.701-45C>A
ENST00000548931.5:c.517-45C>A	ENSP00000457518.1:n.517-45C>A
ENST00000550033.5:n.252-45C>A
ENST00000550286.5:c.625-45C>A	ENSP00000446885.1:n.625-45C>A
ENST00000552876.5:n.1340-45C>A
NM_001173466.1:c.898-45C>A	NP_001166937.1:n.898-45C>A
NM_015665.5:c.997-45C>A	NP_056480.1:n.997-45C>A
XM_006719617.2:c.1012-45C>A	XP_006719680.1:n.1012-45C>A
XM_006719619.2:c.1012-9C>A	XP_006719682.1:n.1012-9C>A
XM_011538777.1:c.1012-45C>A	XP_011537079.1:n.1012-45C>A
XM_011538778.1:c.997-45C>A	XP_011537080.1:n.997-45C>A
XM_011538779.1:c.913-45C>A	XP_011537081.1:n.913-45C>A
XM_011538780.1:c.898-45C>A	XP_011537082.1:n.898-45C>A
XM_011538781.1:c.346-45C>A	XP_011537083.1:n.346-45C>A
XM_011538778.2:c.997-45C>A	XP_011537080.1:n.997-45C>A
XM_011538780.2:c.898-45C>A	XP_011537082.1:n.898-45C>A
XR_001748875.2:n.1018-9C>A
NM_015665.6:c.997-45C>A MANE Select	NP_056480.1:n.997-45C>A
NM_001173466.2:c.898-45C>A	NP_001166937.1:n.898-45C>A