Canonical Allele Identifier: CA2619037729

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308929-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308929C>G , CM000674.2:g.53308929C>G	GRCh38
NC_000012.11:g.53702713C>G , CM000674.1:g.53702713C>G	GRCh37
NC_000012.10:g.51988980C>G	NCBI36
NG_016775.1:g.17700G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.996+31G>C MANE Select	ENSP00000209873.4:n.996+31G>C
ENST00000546393.7:n.1841+31G>C
ENST00000546562.6:n.2060+31G>C
ENST00000547238.6:n.1632+31G>C
ENST00000547520.6:n.990+31G>C
ENST00000547757.2:c.45+31G>C	ENSP00000448020.2:n.45+31G>C
ENST00000548880.2:n.1446+31G>C
ENST00000548931.6:c.516+31G>C	ENSP00000457518.1:n.516+31G>C
ENST00000549450.6:n.930+31G>C
ENST00000552161.6:n.1952+31G>C
ENST00000672797.1:n.1449+31G>C
ENST00000672900.1:n.1825G>C
ENST00000209873.8:c.996+31G>C	ENSP00000209873.4:n.996+31G>C
ENST00000394384.7:c.897+31G>C	ENSP00000377908.3:n.897+31G>C
ENST00000547520.5:n.700+31G>C
ENST00000548931.5:c.516+31G>C	ENSP00000457518.1:n.516+31G>C
ENST00000550033.5:n.251+31G>C
ENST00000550286.5:c.624+31G>C	ENSP00000446885.1:n.624+31G>C
ENST00000552876.5:n.1339+31G>C
NM_001173466.1:c.897+31G>C	NP_001166937.1:n.897+31G>C
NM_015665.5:c.996+31G>C	NP_056480.1:n.996+31G>C
XM_006719617.2:c.1011+31G>C	XP_006719680.1:n.1011+31G>C
XM_006719619.2:c.1011+31G>C	XP_006719682.1:n.1011+31G>C
XM_011538777.1:c.1011+31G>C	XP_011537079.1:n.1011+31G>C
XM_011538778.1:c.996+31G>C	XP_011537080.1:n.996+31G>C
XM_011538779.1:c.912+31G>C	XP_011537081.1:n.912+31G>C
XM_011538780.1:c.897+31G>C	XP_011537082.1:n.897+31G>C
XM_011538781.1:c.345+31G>C	XP_011537083.1:n.345+31G>C
XM_011538778.2:c.996+31G>C	XP_011537080.1:n.996+31G>C
XM_011538780.2:c.897+31G>C	XP_011537082.1:n.897+31G>C
XR_001748875.2:n.1017+31G>C
NM_015665.6:c.996+31G>C MANE Select	NP_056480.1:n.996+31G>C
NM_001173466.2:c.897+31G>C	NP_001166937.1:n.897+31G>C