Canonical Allele Identifier: CA479918404

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702516T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308732T>C , CM000674.2:g.53308732T>C	GRCh38
NC_000012.11:g.53702516T>C , CM000674.1:g.53702516T>C	GRCh37
NC_000012.10:g.51988783T>C	NCBI36
NG_016775.1:g.17897A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1080A>G MANE Select	ENSP00000209873.4:p.Glu360=
ENST00000546562.6:n.2144A>G
ENST00000547238.6:n.1716A>G
ENST00000547520.6:n.1074A>G
ENST00000547757.2:c.129A>G	ENSP00000448020.2:p.Glu43=
ENST00000548880.2:n.1530A>G
ENST00000548931.6:c.600A>G	ENSP00000457518.1:p.Glu200=
ENST00000549450.6:n.1014A>G
ENST00000552161.6:n.2036A>G
ENST00000672797.1:n.1569A>G
ENST00000672900.1:n.2022A>G
ENST00000209873.8:c.1080A>G	ENSP00000209873.4:p.Glu360=
ENST00000394384.7:c.981A>G	ENSP00000377908.3:p.Glu327=
ENST00000548931.5:c.600A>G	ENSP00000457518.1:p.Glu200=
ENST00000550033.5:n.335A>G
ENST00000550286.5:c.708A>G	ENSP00000446885.1:p.Glu236=
ENST00000552876.5:n.1423A>G
NM_001173466.1:c.981A>G	NP_001166937.1:p.Glu327=
NM_015665.5:c.1080A>G	NP_056480.1:p.Glu360=
XM_006719617.2:c.1095A>G	XP_006719680.1:p.Glu365=
XM_011538777.1:c.1095A>G	XP_011537079.1:p.Glu365=
XM_011538778.1:c.1080A>G	XP_011537080.1:p.Glu360=
XM_011538779.1:c.996A>G	XP_011537081.1:p.Glu332=
XM_011538780.1:c.981A>G	XP_011537082.1:p.Glu327=
XM_011538781.1:c.429A>G	XP_011537083.1:p.Glu143=
XM_011538778.2:c.1080A>G	XP_011537080.1:p.Glu360=
XM_011538780.2:c.981A>G	XP_011537082.1:p.Glu327=
XR_001748875.2:n.1137A>G
NM_015665.6:c.1080A>G MANE Select	NP_056480.1:p.Glu360=
NM_001173466.2:c.981A>G	NP_001166937.1:p.Glu327=