Canonical Allele Identifier: CA10641985

Gene: AAAS

Linked Data

• ClinVar Variation Id: 309745
• ClinVar RCV Id: RCV000354929
• dbSNP Id: rs886049653
• gnomAD v4: 12-53321549-C-T
• MyVariant Identifiers: chr12:g.53715333C>T (hg19) ; chr12:g.53321549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53321549C>T , CM000674.2:g.53321549C>T	GRCh38
NC_000012.11:g.53715333C>T , CM000674.1:g.53715333C>T	GRCh37
NC_000012.10:g.52001600C>T	NCBI36
NG_016775.1:g.5080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.-84G>A MANE Select	ENSP00000209873.4:n.-84G>A
ENST00000546393.7:n.15G>A
ENST00000546562.6:n.62G>A
ENST00000548880.2:n.67G>A
ENST00000209873.8:c.-84G>A	ENSP00000209873.4:n.-84G>A
ENST00000394384.7:c.-84G>A	ENSP00000377908.3:n.-84G>A
ENST00000546562.5:n.62G>A
ENST00000547757.1:c.-84G>A	ENSP00000448020.1:n.-84G>A
ENST00000547761.6:n.107+328G>A
ENST00000548258.5:n.152-857G>A
ENST00000548880.1:n.12G>A
ENST00000549821.5:n.121+328G>A
ENST00000549983.5:n.68G>A
ENST00000550286.5:c.-157-857G>A	ENSP00000446885.1:n.-157-857G>A
ENST00000551724.5:n.174-857G>A
ENST00000552161.5:n.12G>A
NM_001173466.1:c.-84G>A	NP_001166937.1:n.-84G>A
NM_015665.5:c.-84G>A	NP_056480.1:n.-84G>A
XM_011538778.1:c.-84G>A	XP_011537080.1:n.-84G>A
XM_011538780.1:c.-84G>A	XP_011537082.1:n.-84G>A
XM_011538778.2:c.-84G>A	XP_011537080.1:n.-84G>A
XM_011538780.2:c.-84G>A	XP_011537082.1:n.-84G>A
XR_001748875.2:n.37G>A
NM_015665.6:c.-84G>A MANE Select	NP_056480.1:n.-84G>A
NM_001173466.2:c.-84G>A	NP_001166937.1:n.-84G>A