Canonical Allele Identifier: CA385034393

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701275A>C (hg19) ; chr12:g.53307491A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307491A>C , CM000674.2:g.53307491A>C	GRCh38
NC_000012.11:g.53701275A>C , CM000674.1:g.53701275A>C	GRCh37
NC_000012.10:g.51987542A>C	NCBI36
NG_016775.1:g.19138T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1639T>G MANE Select	ENSP00000209873.4:p.Ter547Glu
ENST00000547757.2:c.*557T>G	ENSP00000448020.2:n.*557T>G
ENST00000548931.6:c.1074T>G	ENSP00000457518.1:p.Ser358=
ENST00000549450.6:n.1573T>G
ENST00000209873.8:c.1639T>G	ENSP00000209873.4:p.Ter547Glu
ENST00000394384.7:c.1540T>G	ENSP00000377908.3:p.Ter514Glu
ENST00000548931.5:c.1074T>G	ENSP00000457518.1:p.Ser358=
ENST00000550286.5:c.1267T>G	ENSP00000446885.1:p.Ter423Glu
ENST00000552876.5:n.1982T>G
NM_001173466.1:c.1540T>G	NP_001166937.1:p.Ter514Glu
NM_015665.5:c.1639T>G	NP_056480.1:p.Ter547Glu
XM_006719617.2:c.1654T>G	XP_006719680.1:p.Ter552Glu
XM_011538777.1:c.1696T>G	XP_011537079.1:p.Ter566Glu
XM_011538778.1:c.1681T>G	XP_011537080.1:p.Ter561Glu
XM_011538779.1:c.1597T>G	XP_011537081.1:p.Ter533Glu
XM_011538780.1:c.1582T>G	XP_011537082.1:p.Ter528Glu
XM_011538781.1:c.1030T>G	XP_011537083.1:p.Ter344Glu
XM_011538778.2:c.1681T>G	XP_011537080.1:p.Ter561Glu
XM_011538780.2:c.1582T>G	XP_011537082.1:p.Ter528Glu
XR_001748875.2:n.1696T>G
NM_015665.6:c.1639T>G MANE Select	NP_056480.1:p.Ter547Glu
NM_001173466.2:c.1540T>G	NP_001166937.1:p.Ter514Glu