Canonical Allele Identifier: CA2619037186

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307771-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307771A>G , CM000674.2:g.53307771A>G	GRCh38
NC_000012.11:g.53701555A>G , CM000674.1:g.53701555A>G	GRCh37
NC_000012.10:g.51987822A>G	NCBI36
NG_016775.1:g.18858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1417-58T>C MANE Select	ENSP00000209873.4:n.1417-58T>C
ENST00000546562.6:n.2481-58T>C
ENST00000547238.6:n.2053-58T>C
ENST00000547520.6:n.1533-58T>C
ENST00000547757.2:c.*277T>C	ENSP00000448020.2:n.*277T>C
ENST00000548880.2:n.1867-58T>C
ENST00000548931.6:c.852-58T>C	ENSP00000457518.1:n.852-58T>C
ENST00000549450.6:n.1351-58T>C
ENST00000552161.6:n.2495-58T>C
ENST00000672797.1:n.1906-58T>C
ENST00000209873.8:c.1417-58T>C	ENSP00000209873.4:n.1417-58T>C
ENST00000394384.7:c.1318-58T>C	ENSP00000377908.3:n.1318-58T>C
ENST00000548931.5:c.852-58T>C	ENSP00000457518.1:n.852-58T>C
ENST00000550033.5:n.867T>C
ENST00000550286.5:c.1045-58T>C	ENSP00000446885.1:n.1045-58T>C
ENST00000552876.5:n.1760-58T>C
NM_001173466.1:c.1318-58T>C	NP_001166937.1:n.1318-58T>C
NM_015665.5:c.1417-58T>C	NP_056480.1:n.1417-58T>C
XM_006719617.2:c.1432-58T>C	XP_006719680.1:n.1432-58T>C
XM_011538777.1:c.1474-58T>C	XP_011537079.1:n.1474-58T>C
XM_011538778.1:c.1459-58T>C	XP_011537080.1:n.1459-58T>C
XM_011538779.1:c.1375-58T>C	XP_011537081.1:n.1375-58T>C
XM_011538780.1:c.1360-58T>C	XP_011537082.1:n.1360-58T>C
XM_011538781.1:c.808-58T>C	XP_011537083.1:n.808-58T>C
XM_011538778.2:c.1459-58T>C	XP_011537080.1:n.1459-58T>C
XM_011538780.2:c.1360-58T>C	XP_011537082.1:n.1360-58T>C
XR_001748875.2:n.1474-58T>C
NM_015665.6:c.1417-58T>C MANE Select	NP_056480.1:n.1417-58T>C
NM_001173466.2:c.1318-58T>C	NP_001166937.1:n.1318-58T>C