Canonical Allele Identifier: CA2351054190

Gene: SPTLC3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13072400T= , CM000682.2:g.13072400T=	GRCh38
NC_000020.10:g.13053048T= , CM000682.1:g.13053048T=	GRCh37
NC_000020.9:g.13001048T=	NCBI36
NG_053155.1:g.68422T=

Transcript Alleles

HGVS	Amino-acid Change
NM_018327.4:c.448T= MANE Select	NP_060797.2:p.Trp150=
ENST00000399002.7:c.448T= MANE Select	ENSP00000381968.2:p.Trp150=
NM_001349945.1:c.448T=	NP_001336874.1:p.Trp150=
NM_001349945.2:c.448T=	NP_001336874.1:p.Trp150=
NM_018327.2:c.448T=	NP_060797.2:p.Trp150=
NM_018327.3:c.448T=	NP_060797.2:p.Trp150=
ENST00000399002.6:c.448T=	ENSP00000381968.2:p.Trp150=
ENST00000450297.1:c.367T=	ENSP00000409125.1:p.Trp123=
XM_011529278.1:c.448T=	XP_011527580.1:p.Trp150=
XM_011529279.1:c.448T=	XP_011527581.1:p.Trp150=
XM_017027922.1:c.448T=	XP_016883411.1:p.Trp150=
XR_001754317.1:n.505T=