Canonical Allele Identifier: CA1358653241

Gene: SCN10A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752313A= , CM000665.2:g.38752313A=	GRCh38
NC_000003.11:g.38793804A= , CM000665.1:g.38793804A=	GRCh37
NC_000003.10:g.38768808A=	NCBI36
NG_031891.2:g.46698T=

Transcript Alleles

HGVS	Amino-acid Change
NM_006514.4:c.1661T= MANE Select	NP_006505.4:p.Leu554=
ENST00000449082.3:c.1661T= MANE Select	ENSP00000390600.2:p.Leu554=
NM_001293306.2:c.1661T=	NP_001280235.2:p.Leu554=
NM_001293307.2:c.1462-2129T=	NP_001280236.2:n.1462-2129T=
NM_006514.3:c.1661T=	NP_006505.3:p.Leu554=
ENST00000449082.2:c.1661T=	ENSP00000390600.2:p.Leu554=
ENST00000643924.1:c.1661T=	ENSP00000495595.1:p.Leu554=
ENST00000655275.1:c.1688T=	ENSP00000499510.1:p.Leu563=
XM_005265371.2:c.1670T=	XP_005265428.1:p.Leu557=
XM_005265371.3:c.1670T=	XP_005265428.1:p.Leu557=
XM_011533993.1:c.1670T=	XP_011532295.1:p.Leu557=
XM_011533993.2:c.1670T=	XP_011532295.1:p.Leu557=
XM_011533994.1:c.1471-2129T=	XP_011532296.1:n.1471-2129T=
XM_011533994.2:c.1471-2129T=	XP_011532296.1:n.1471-2129T=