Canonical Allele Identifier: CA385040789

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702587T>G (hg19) ; chr12:g.53308803T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308803T>G , CM000674.2:g.53308803T>G	GRCh38
NC_000012.11:g.53702587T>G , CM000674.1:g.53702587T>G	GRCh37
NC_000012.10:g.51988854T>G	NCBI36
NG_016775.1:g.17826A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1009A>C MANE Select	ENSP00000209873.4:p.Ser337Arg
ENST00000546393.7:n.1854A>C
ENST00000546562.6:n.2073A>C
ENST00000547238.6:n.1645A>C
ENST00000547520.6:n.1003A>C
ENST00000547757.2:c.58A>C	ENSP00000448020.2:p.Ser20Arg
ENST00000548880.2:n.1459A>C
ENST00000548931.6:c.529A>C	ENSP00000457518.1:p.Ser177Arg
ENST00000549450.6:n.943A>C
ENST00000552161.6:n.1965A>C
ENST00000672797.1:n.1498A>C
ENST00000672900.1:n.1951A>C
ENST00000209873.8:c.1009A>C	ENSP00000209873.4:p.Ser337Arg
ENST00000394384.7:c.910A>C	ENSP00000377908.3:p.Ser304Arg
ENST00000547520.5:n.713A>C
ENST00000548931.5:c.529A>C	ENSP00000457518.1:p.Ser177Arg
ENST00000550033.5:n.264A>C
ENST00000550286.5:c.637A>C	ENSP00000446885.1:p.Ser213Arg
ENST00000552876.5:n.1352A>C
NM_001173466.1:c.910A>C	NP_001166937.1:p.Ser304Arg
NM_015665.5:c.1009A>C	NP_056480.1:p.Ser337Arg
XM_006719617.2:c.1024A>C	XP_006719680.1:p.Ser342Arg
XM_006719619.2:c.*19A>C	XP_006719682.1:n.*19A>C
XM_011538777.1:c.1024A>C	XP_011537079.1:p.Ser342Arg
XM_011538778.1:c.1009A>C	XP_011537080.1:p.Ser337Arg
XM_011538779.1:c.925A>C	XP_011537081.1:p.Ser309Arg
XM_011538780.1:c.910A>C	XP_011537082.1:p.Ser304Arg
XM_011538781.1:c.358A>C	XP_011537083.1:p.Ser120Arg
XM_011538778.2:c.1009A>C	XP_011537080.1:p.Ser337Arg
XM_011538780.2:c.910A>C	XP_011537082.1:p.Ser304Arg
XR_001748875.2:n.1066A>C
NM_015665.6:c.1009A>C MANE Select	NP_056480.1:p.Ser337Arg
NM_001173466.2:c.910A>C	NP_001166937.1:p.Ser304Arg