Canonical Allele Identifier: CA2619037858

Gene: AAAS

Linked Data

• gnomAD v4: 12-53309080-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309080C>T , CM000674.2:g.53309080C>T	GRCh38
NC_000012.11:g.53702864C>T , CM000674.1:g.53702864C>T	GRCh37
NC_000012.10:g.51989131C>T	NCBI36
NG_016775.1:g.17549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.936-60G>A MANE Select	ENSP00000209873.4:n.936-60G>A
ENST00000546393.7:n.1781-60G>A
ENST00000546562.6:n.2000-60G>A
ENST00000547238.6:n.1572-60G>A
ENST00000547520.6:n.930-60G>A
ENST00000547757.2:c.-16-60G>A	ENSP00000448020.2:n.-16-60G>A
ENST00000548880.2:n.1386-60G>A
ENST00000548931.6:c.456-60G>A	ENSP00000457518.1:n.456-60G>A
ENST00000549450.6:n.870-60G>A
ENST00000552161.6:n.1892-60G>A
ENST00000672797.1:n.1389-60G>A
ENST00000672900.1:n.1734-60G>A
ENST00000209873.8:c.936-60G>A	ENSP00000209873.4:n.936-60G>A
ENST00000394384.7:c.837-60G>A	ENSP00000377908.3:n.837-60G>A
ENST00000546572.1:n.464G>A
ENST00000547520.5:n.640-60G>A
ENST00000548931.5:c.456-60G>A	ENSP00000457518.1:n.456-60G>A
ENST00000550033.5:n.191-60G>A
ENST00000550286.5:c.564-60G>A	ENSP00000446885.1:n.564-60G>A
ENST00000552876.5:n.1279-60G>A
NM_001173466.1:c.837-60G>A	NP_001166937.1:n.837-60G>A
NM_015665.5:c.936-60G>A	NP_056480.1:n.936-60G>A
XM_006719617.2:c.951-60G>A	XP_006719680.1:n.951-60G>A
XM_006719619.2:c.951-60G>A	XP_006719682.1:n.951-60G>A
XM_011538777.1:c.951-60G>A	XP_011537079.1:n.951-60G>A
XM_011538778.1:c.936-60G>A	XP_011537080.1:n.936-60G>A
XM_011538779.1:c.852-60G>A	XP_011537081.1:n.852-60G>A
XM_011538780.1:c.837-60G>A	XP_011537082.1:n.837-60G>A
XM_011538781.1:c.285-60G>A	XP_011537083.1:n.285-60G>A
XM_011538778.2:c.936-60G>A	XP_011537080.1:n.936-60G>A
XM_011538780.2:c.837-60G>A	XP_011537082.1:n.837-60G>A
XR_001748875.2:n.957-60G>A
NM_015665.6:c.936-60G>A MANE Select	NP_056480.1:n.936-60G>A
NM_001173466.2:c.837-60G>A	NP_001166937.1:n.837-60G>A