Canonical Allele Identifier: CA2575173819

Gene: AAAS

Linked Data

• ClinVar Variation Id: 2731730
• ClinVar RCV Id: RCV003573237

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307726G>A , CM000674.2:g.53307726G>A	GRCh38
NC_000012.11:g.53701510G>A , CM000674.1:g.53701510G>A	GRCh37
NC_000012.10:g.51987777G>A	NCBI36
NG_016775.1:g.18903C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1417-13C>T MANE Select	ENSP00000209873.4:n.1417-13C>T
ENST00000546562.6:n.2481-13C>T
ENST00000547238.6:n.2053-13C>T
ENST00000547520.6:n.1533-13C>T
ENST00000547757.2:c.*322C>T	ENSP00000448020.2:n.*322C>T
ENST00000548880.2:n.1867-13C>T
ENST00000548931.6:c.852-13C>T	ENSP00000457518.1:n.852-13C>T
ENST00000549450.6:n.1351-13C>T
ENST00000552161.6:n.2495-13C>T
ENST00000672797.1:n.1906-13C>T
ENST00000209873.8:c.1417-13C>T	ENSP00000209873.4:n.1417-13C>T
ENST00000394384.7:c.1318-13C>T	ENSP00000377908.3:n.1318-13C>T
ENST00000548931.5:c.852-13C>T	ENSP00000457518.1:n.852-13C>T
ENST00000550286.5:c.1045-13C>T	ENSP00000446885.1:n.1045-13C>T
ENST00000552876.5:n.1760-13C>T
NM_001173466.1:c.1318-13C>T	NP_001166937.1:n.1318-13C>T
NM_015665.5:c.1417-13C>T	NP_056480.1:n.1417-13C>T
XM_006719617.2:c.1432-13C>T	XP_006719680.1:n.1432-13C>T
XM_011538777.1:c.1474-13C>T	XP_011537079.1:n.1474-13C>T
XM_011538778.1:c.1459-13C>T	XP_011537080.1:n.1459-13C>T
XM_011538779.1:c.1375-13C>T	XP_011537081.1:n.1375-13C>T
XM_011538780.1:c.1360-13C>T	XP_011537082.1:n.1360-13C>T
XM_011538781.1:c.808-13C>T	XP_011537083.1:n.808-13C>T
XM_011538778.2:c.1459-13C>T	XP_011537080.1:n.1459-13C>T
XM_011538780.2:c.1360-13C>T	XP_011537082.1:n.1360-13C>T
XR_001748875.2:n.1474-13C>T
NM_015665.6:c.1417-13C>T MANE Select	NP_056480.1:n.1417-13C>T
NM_001173466.2:c.1318-13C>T	NP_001166937.1:n.1318-13C>T