Canonical Allele Identifier: CA2619037868

Gene: AAAS

Linked Data

• gnomAD v4: 12-53309091-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309091A>C , CM000674.2:g.53309091A>C	GRCh38
NC_000012.11:g.53702875A>C , CM000674.1:g.53702875A>C	GRCh37
NC_000012.10:g.51989142A>C	NCBI36
NG_016775.1:g.17538T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.935+66T>G MANE Select	ENSP00000209873.4:n.935+66T>G
ENST00000546393.7:n.1780+66T>G
ENST00000546562.6:n.1999+66T>G
ENST00000547238.6:n.1571+66T>G
ENST00000547520.6:n.929+66T>G
ENST00000547757.2:c.-17+66T>G	ENSP00000448020.2:n.-17+66T>G
ENST00000548880.2:n.1385+66T>G
ENST00000548931.6:c.455+66T>G	ENSP00000457518.1:n.455+66T>G
ENST00000549450.6:n.869+66T>G
ENST00000552161.6:n.1891+66T>G
ENST00000672797.1:n.1388+66T>G
ENST00000672900.1:n.1733+66T>G
ENST00000209873.8:c.935+66T>G	ENSP00000209873.4:n.935+66T>G
ENST00000394384.7:c.836+66T>G	ENSP00000377908.3:n.836+66T>G
ENST00000546572.1:n.453T>G
ENST00000547520.5:n.639+66T>G
ENST00000548931.5:c.455+66T>G	ENSP00000457518.1:n.455+66T>G
ENST00000550033.5:n.190+66T>G
ENST00000550286.5:c.563+66T>G	ENSP00000446885.1:n.563+66T>G
ENST00000552876.5:n.1278+66T>G
NM_001173466.1:c.836+66T>G	NP_001166937.1:n.836+66T>G
NM_015665.5:c.935+66T>G	NP_056480.1:n.935+66T>G
XM_006719617.2:c.950+66T>G	XP_006719680.1:n.950+66T>G
XM_006719619.2:c.950+66T>G	XP_006719682.1:n.950+66T>G
XM_011538777.1:c.950+66T>G	XP_011537079.1:n.950+66T>G
XM_011538778.1:c.935+66T>G	XP_011537080.1:n.935+66T>G
XM_011538779.1:c.851+66T>G	XP_011537081.1:n.851+66T>G
XM_011538780.1:c.836+66T>G	XP_011537082.1:n.836+66T>G
XM_011538781.1:c.284+66T>G	XP_011537083.1:n.284+66T>G
XM_011538778.2:c.935+66T>G	XP_011537080.1:n.935+66T>G
XM_011538780.2:c.836+66T>G	XP_011537082.1:n.836+66T>G
XR_001748875.2:n.956+66T>G
NM_015665.6:c.935+66T>G MANE Select	NP_056480.1:n.935+66T>G
NM_001173466.2:c.836+66T>G	NP_001166937.1:n.836+66T>G