Canonical Allele Identifier: CA13754699

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53314653T>C , CM000674.2:g.53314653T>C	GRCh38
NC_000012.11:g.53708437T>C , CM000674.1:g.53708437T>C	GRCh37
NC_000012.10:g.51994704T>C	NCBI36
NG_016775.1:g.11976A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.545+98A>G MANE Select	NP_056480.1:n.545+98A>G
ENST00000209873.9:c.545+98A>G MANE Select	ENSP00000209873.4:n.545+98A>G
NM_001173466.1:c.447-212A>G	NP_001166937.1:n.447-212A>G
NM_001173466.2:c.447-212A>G	NP_001166937.1:n.447-212A>G
NM_015665.5:c.545+98A>G	NP_056480.1:n.545+98A>G
ENST00000209873.8:c.545+98A>G	ENSP00000209873.4:n.545+98A>G
ENST00000394384.7:c.447-212A>G	ENSP00000377908.3:n.447-212A>G
ENST00000546393.6:n.231A>G
ENST00000546393.7:n.1179A>G
ENST00000546562.6:n.1398A>G
ENST00000547238.5:n.938+98A>G
ENST00000547238.6:n.1181+98A>G
ENST00000547520.5:n.249+98A>G
ENST00000547520.6:n.539+98A>G
ENST00000547757.1:c.447-212A>G	ENSP00000448020.1:n.447-212A>G
ENST00000547757.2:c.-406-212A>G	ENSP00000448020.2:n.-406-212A>G
ENST00000547761.6:n.437+98A>G
ENST00000548880.2:n.995+98A>G
ENST00000548931.5:c.65+98A>G	ENSP00000457518.1:n.65+98A>G
ENST00000548931.6:c.65+98A>G	ENSP00000457518.1:n.65+98A>G
ENST00000549450.5:n.539+98A>G
ENST00000549450.6:n.479+98A>G
ENST00000549821.5:n.543+98A>G
ENST00000549983.5:n.568+98A>G
ENST00000550286.5:c.173+98A>G	ENSP00000446885.1:n.173+98A>G
ENST00000552161.6:n.1501+98A>G
ENST00000552876.5:n.889-212A>G
ENST00000672797.1:n.998+98A>G
ENST00000672900.1:n.1132A>G
XM_006719617.2:c.560+98A>G	XP_006719680.1:n.560+98A>G
XM_006719619.2:c.560+98A>G	XP_006719682.1:n.560+98A>G
XM_011538777.1:c.560+98A>G	XP_011537079.1:n.560+98A>G
XM_011538778.1:c.545+98A>G	XP_011537080.1:n.545+98A>G
XM_011538778.2:c.545+98A>G	XP_011537080.1:n.545+98A>G
XM_011538779.1:c.462-212A>G	XP_011537081.1:n.462-212A>G
XM_011538780.1:c.447-212A>G	XP_011537082.1:n.447-212A>G
XM_011538780.2:c.447-212A>G	XP_011537082.1:n.447-212A>G
XR_001748875.2:n.567-212A>G