Canonical Allele Identifier: CA237331335

Gene: AAAS

Linked Data

• dbSNP Id: rs900728531
• gnomAD v3: 12-53308917-A-G
• gnomAD v4: 12-53308917-A-G
• MyVariant Identifiers: chr12:g.53702701A>G (hg19) ; chr12:g.53308917A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308917A>G , CM000674.2:g.53308917A>G	GRCh38
NC_000012.11:g.53702701A>G , CM000674.1:g.53702701A>G	GRCh37
NC_000012.10:g.51988968A>G	NCBI36
NG_016775.1:g.17712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.996+43T>C MANE Select	ENSP00000209873.4:n.996+43T>C
ENST00000546393.7:n.1841+43T>C
ENST00000546562.6:n.2060+43T>C
ENST00000547238.6:n.1632+43T>C
ENST00000547520.6:n.990+43T>C
ENST00000547757.2:c.45+43T>C	ENSP00000448020.2:n.45+43T>C
ENST00000548880.2:n.1446+43T>C
ENST00000548931.6:c.516+43T>C	ENSP00000457518.1:n.516+43T>C
ENST00000549450.6:n.930+43T>C
ENST00000552161.6:n.1952+43T>C
ENST00000672797.1:n.1449+43T>C
ENST00000672900.1:n.1837T>C
ENST00000209873.8:c.996+43T>C	ENSP00000209873.4:n.996+43T>C
ENST00000394384.7:c.897+43T>C	ENSP00000377908.3:n.897+43T>C
ENST00000547520.5:n.700+43T>C
ENST00000548931.5:c.516+43T>C	ENSP00000457518.1:n.516+43T>C
ENST00000550033.5:n.251+43T>C
ENST00000550286.5:c.624+43T>C	ENSP00000446885.1:n.624+43T>C
ENST00000552876.5:n.1339+43T>C
NM_001173466.1:c.897+43T>C	NP_001166937.1:n.897+43T>C
NM_015665.5:c.996+43T>C	NP_056480.1:n.996+43T>C
XM_006719617.2:c.1011+43T>C	XP_006719680.1:n.1011+43T>C
XM_006719619.2:c.1011+43T>C	XP_006719682.1:n.1011+43T>C
XM_011538777.1:c.1011+43T>C	XP_011537079.1:n.1011+43T>C
XM_011538778.1:c.996+43T>C	XP_011537080.1:n.996+43T>C
XM_011538779.1:c.912+43T>C	XP_011537081.1:n.912+43T>C
XM_011538780.1:c.897+43T>C	XP_011537082.1:n.897+43T>C
XM_011538781.1:c.345+43T>C	XP_011537083.1:n.345+43T>C
XM_011538778.2:c.996+43T>C	XP_011537080.1:n.996+43T>C
XM_011538780.2:c.897+43T>C	XP_011537082.1:n.897+43T>C
XR_001748875.2:n.1017+43T>C
NM_015665.6:c.996+43T>C MANE Select	NP_056480.1:n.996+43T>C
NM_001173466.2:c.897+43T>C	NP_001166937.1:n.897+43T>C