Canonical Allele Identifier: CA203842

Gene: AAAS

Linked Data

• ClinVar Variation Id: 202169
• ClinVar RCV Id: RCV000184015
• dbSNP Id: rs773601814
• gnomAD v3: 12-53309018-A-G
• gnomAD v4: 12-53309018-A-G
• MyVariant Identifiers: chr12:g.53702802A>G (hg19) ; chr12:g.53309018A>G (hg38)
• PubMed: PMID:12752575

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309018A>G , CM000674.2:g.53309018A>G	GRCh38
NC_000012.11:g.53702802A>G , CM000674.1:g.53702802A>G	GRCh37
NC_000012.10:g.51989069A>G	NCBI36
NG_016775.1:g.17611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.938T>C MANE Select	ENSP00000209873.4:p.Val313Ala
ENST00000546393.7:n.1783T>C
ENST00000546562.6:n.2002T>C
ENST00000547238.6:n.1574T>C
ENST00000547520.6:n.932T>C
ENST00000547757.2:c.-14T>C	ENSP00000448020.2:n.-14T>C
ENST00000548880.2:n.1388T>C
ENST00000548931.6:c.458T>C	ENSP00000457518.1:p.Val153Ala
ENST00000549450.6:n.872T>C
ENST00000552161.6:n.1894T>C
ENST00000672797.1:n.1391T>C
ENST00000672900.1:n.1736T>C
ENST00000209873.8:c.938T>C	ENSP00000209873.4:p.Val313Ala
ENST00000394384.7:c.839T>C	ENSP00000377908.3:p.Val280Ala
ENST00000546572.1:n.526T>C
ENST00000547520.5:n.642T>C
ENST00000548931.5:c.458T>C	ENSP00000457518.1:p.Val153Ala
ENST00000550033.5:n.193T>C
ENST00000550286.5:c.566T>C	ENSP00000446885.1:p.Val189Ala
ENST00000552876.5:n.1281T>C
NM_001173466.1:c.839T>C	NP_001166937.1:p.Val280Ala
NM_015665.5:c.938T>C	NP_056480.1:p.Val313Ala
XM_006719617.2:c.953T>C	XP_006719680.1:p.Val318Ala
XM_006719619.2:c.953T>C	XP_006719682.1:p.Val318Ala
XM_011538777.1:c.953T>C	XP_011537079.1:p.Val318Ala
XM_011538778.1:c.938T>C	XP_011537080.1:p.Val313Ala
XM_011538779.1:c.854T>C	XP_011537081.1:p.Val285Ala
XM_011538780.1:c.839T>C	XP_011537082.1:p.Val280Ala
XM_011538781.1:c.287T>C	XP_011537083.1:p.Val96Ala
XM_011538778.2:c.938T>C	XP_011537080.1:p.Val313Ala
XM_011538780.2:c.839T>C	XP_011537082.1:p.Val280Ala
XR_001748875.2:n.959T>C
NM_015665.6:c.938T>C MANE Select	NP_056480.1:p.Val313Ala
NM_001173466.2:c.839T>C	NP_001166937.1:p.Val280Ala