Canonical Allele Identifier: CA479918449

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702570T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308786T>C , CM000674.2:g.53308786T>C	GRCh38
NC_000012.11:g.53702570T>C , CM000674.1:g.53702570T>C	GRCh37
NC_000012.10:g.51988837T>C	NCBI36
NG_016775.1:g.17843A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1026A>G MANE Select	ENSP00000209873.4:p.Arg342=
ENST00000546393.7:n.1871A>G
ENST00000546562.6:n.2090A>G
ENST00000547238.6:n.1662A>G
ENST00000547520.6:n.1020A>G
ENST00000547757.2:c.75A>G	ENSP00000448020.2:p.Arg25=
ENST00000548880.2:n.1476A>G
ENST00000548931.6:c.546A>G	ENSP00000457518.1:p.Arg182=
ENST00000549450.6:n.960A>G
ENST00000552161.6:n.1982A>G
ENST00000672797.1:n.1515A>G
ENST00000672900.1:n.1968A>G
ENST00000209873.8:c.1026A>G	ENSP00000209873.4:p.Arg342=
ENST00000394384.7:c.927A>G	ENSP00000377908.3:p.Arg309=
ENST00000547520.5:n.730A>G
ENST00000548931.5:c.546A>G	ENSP00000457518.1:p.Arg182=
ENST00000550033.5:n.281A>G
ENST00000550286.5:c.654A>G	ENSP00000446885.1:p.Arg218=
ENST00000552876.5:n.1369A>G
NM_001173466.1:c.927A>G	NP_001166937.1:p.Arg309=
NM_015665.5:c.1026A>G	NP_056480.1:p.Arg342=
XM_006719617.2:c.1041A>G	XP_006719680.1:p.Arg347=
XM_006719619.2:c.*36A>G	XP_006719682.1:n.*36A>G
XM_011538777.1:c.1041A>G	XP_011537079.1:p.Arg347=
XM_011538778.1:c.1026A>G	XP_011537080.1:p.Arg342=
XM_011538779.1:c.942A>G	XP_011537081.1:p.Arg314=
XM_011538780.1:c.927A>G	XP_011537082.1:p.Arg309=
XM_011538781.1:c.375A>G	XP_011537083.1:p.Arg125=
XM_011538778.2:c.1026A>G	XP_011537080.1:p.Arg342=
XM_011538780.2:c.927A>G	XP_011537082.1:p.Arg309=
XR_001748875.2:n.1083A>G
NM_015665.6:c.1026A>G MANE Select	NP_056480.1:p.Arg342=
NM_001173466.2:c.927A>G	NP_001166937.1:p.Arg309=