Canonical Allele Identifier: CA479918412

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702525A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308741A>G , CM000674.2:g.53308741A>G	GRCh38
NC_000012.11:g.53702525A>G , CM000674.1:g.53702525A>G	GRCh37
NC_000012.10:g.51988792A>G	NCBI36
NG_016775.1:g.17888T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1071T>C MANE Select	ENSP00000209873.4:p.Ser357=
ENST00000546562.6:n.2135T>C
ENST00000547238.6:n.1707T>C
ENST00000547520.6:n.1065T>C
ENST00000547757.2:c.120T>C	ENSP00000448020.2:p.Ser40=
ENST00000548880.2:n.1521T>C
ENST00000548931.6:c.591T>C	ENSP00000457518.1:p.Ser197=
ENST00000549450.6:n.1005T>C
ENST00000552161.6:n.2027T>C
ENST00000672797.1:n.1560T>C
ENST00000672900.1:n.2013T>C
ENST00000209873.8:c.1071T>C	ENSP00000209873.4:p.Ser357=
ENST00000394384.7:c.972T>C	ENSP00000377908.3:p.Ser324=
ENST00000548931.5:c.591T>C	ENSP00000457518.1:p.Ser197=
ENST00000550033.5:n.326T>C
ENST00000550286.5:c.699T>C	ENSP00000446885.1:p.Ser233=
ENST00000552876.5:n.1414T>C
NM_001173466.1:c.972T>C	NP_001166937.1:p.Ser324=
NM_015665.5:c.1071T>C	NP_056480.1:p.Ser357=
XM_006719617.2:c.1086T>C	XP_006719680.1:p.Ser362=
XM_011538777.1:c.1086T>C	XP_011537079.1:p.Ser362=
XM_011538778.1:c.1071T>C	XP_011537080.1:p.Ser357=
XM_011538779.1:c.987T>C	XP_011537081.1:p.Ser329=
XM_011538780.1:c.972T>C	XP_011537082.1:p.Ser324=
XM_011538781.1:c.420T>C	XP_011537083.1:p.Ser140=
XM_011538778.2:c.1071T>C	XP_011537080.1:p.Ser357=
XM_011538780.2:c.972T>C	XP_011537082.1:p.Ser324=
XR_001748875.2:n.1128T>C
NM_015665.6:c.1071T>C MANE Select	NP_056480.1:p.Ser357=
NM_001173466.2:c.972T>C	NP_001166937.1:p.Ser324=