Canonical Allele Identifier: CA2839511809

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309105C>G , CM000674.2:g.53309105C>G	GRCh38
NC_000012.11:g.53702889C>G , CM000674.1:g.53702889C>G	GRCh37
NC_000012.10:g.51989156C>G	NCBI36
NG_016775.1:g.17524G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.935+52G>C MANE Select	ENSP00000209873.4:n.935+52G>C
ENST00000546393.7:n.1780+52G>C
ENST00000546562.6:n.1999+52G>C
ENST00000547238.6:n.1571+52G>C
ENST00000547520.6:n.929+52G>C
ENST00000547757.2:c.-17+52G>C	ENSP00000448020.2:n.-17+52G>C
ENST00000548880.2:n.1385+52G>C
ENST00000548931.6:c.455+52G>C	ENSP00000457518.1:n.455+52G>C
ENST00000549450.6:n.869+52G>C
ENST00000552161.6:n.1891+52G>C
ENST00000672797.1:n.1388+52G>C
ENST00000672900.1:n.1733+52G>C
ENST00000209873.8:c.935+52G>C	ENSP00000209873.4:n.935+52G>C
ENST00000394384.7:c.836+52G>C	ENSP00000377908.3:n.836+52G>C
ENST00000546572.1:n.439G>C
ENST00000547520.5:n.639+52G>C
ENST00000548931.5:c.455+52G>C	ENSP00000457518.1:n.455+52G>C
ENST00000550033.5:n.190+52G>C
ENST00000550286.5:c.563+52G>C	ENSP00000446885.1:n.563+52G>C
ENST00000552876.5:n.1278+52G>C
NM_001173466.1:c.836+52G>C	NP_001166937.1:n.836+52G>C
NM_015665.5:c.935+52G>C	NP_056480.1:n.935+52G>C
XM_006719617.2:c.950+52G>C	XP_006719680.1:n.950+52G>C
XM_006719619.2:c.950+52G>C	XP_006719682.1:n.950+52G>C
XM_011538777.1:c.950+52G>C	XP_011537079.1:n.950+52G>C
XM_011538778.1:c.935+52G>C	XP_011537080.1:n.935+52G>C
XM_011538779.1:c.851+52G>C	XP_011537081.1:n.851+52G>C
XM_011538780.1:c.836+52G>C	XP_011537082.1:n.836+52G>C
XM_011538781.1:c.284+52G>C	XP_011537083.1:n.284+52G>C
XM_011538778.2:c.935+52G>C	XP_011537080.1:n.935+52G>C
XM_011538780.2:c.836+52G>C	XP_011537082.1:n.836+52G>C
XR_001748875.2:n.956+52G>C
NM_015665.6:c.935+52G>C MANE Select	NP_056480.1:n.935+52G>C
NM_001173466.2:c.836+52G>C	NP_001166937.1:n.836+52G>C