Canonical Allele Identifier: CA2619037193

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307784-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307784A>T , CM000674.2:g.53307784A>T	GRCh38
NC_000012.11:g.53701568A>T , CM000674.1:g.53701568A>T	GRCh37
NC_000012.10:g.51987835A>T	NCBI36
NG_016775.1:g.18845T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1416+61T>A MANE Select	ENSP00000209873.4:n.1416+61T>A
ENST00000546562.6:n.2480+61T>A
ENST00000547238.6:n.2052+61T>A
ENST00000547520.6:n.1532+61T>A
ENST00000547757.2:c.*264T>A	ENSP00000448020.2:n.*264T>A
ENST00000548880.2:n.1866+61T>A
ENST00000548931.6:c.852-71T>A	ENSP00000457518.1:n.852-71T>A
ENST00000549450.6:n.1350+61T>A
ENST00000552161.6:n.2494+61T>A
ENST00000672797.1:n.1905+61T>A
ENST00000209873.8:c.1416+61T>A	ENSP00000209873.4:n.1416+61T>A
ENST00000394384.7:c.1317+61T>A	ENSP00000377908.3:n.1317+61T>A
ENST00000548931.5:c.852-71T>A	ENSP00000457518.1:n.852-71T>A
ENST00000550033.5:n.854T>A
ENST00000550286.5:c.1044+61T>A	ENSP00000446885.1:n.1044+61T>A
ENST00000552876.5:n.1759+61T>A
NM_001173466.1:c.1317+61T>A	NP_001166937.1:n.1317+61T>A
NM_015665.5:c.1416+61T>A	NP_056480.1:n.1416+61T>A
XM_006719617.2:c.1431+61T>A	XP_006719680.1:n.1431+61T>A
XM_011538777.1:c.1473+61T>A	XP_011537079.1:n.1473+61T>A
XM_011538778.1:c.1458+61T>A	XP_011537080.1:n.1458+61T>A
XM_011538779.1:c.1374+61T>A	XP_011537081.1:n.1374+61T>A
XM_011538780.1:c.1359+61T>A	XP_011537082.1:n.1359+61T>A
XM_011538781.1:c.807+61T>A	XP_011537083.1:n.807+61T>A
XM_011538778.2:c.1458+61T>A	XP_011537080.1:n.1458+61T>A
XM_011538780.2:c.1359+61T>A	XP_011537082.1:n.1359+61T>A
XR_001748875.2:n.1473+61T>A
NM_015665.6:c.1416+61T>A MANE Select	NP_056480.1:n.1416+61T>A
NM_001173466.2:c.1317+61T>A	NP_001166937.1:n.1317+61T>A