Canonical Allele Identifier: CA1358653248
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752331G= , CM000665.2:g.38752331G= GRCh38
NC_000003.11:g.38793822G= , CM000665.1:g.38793822G= GRCh37
NC_000003.10:g.38768826G= NCBI36
NG_031891.2:g.46680C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.1643C= MANE Select ENSP00000390600.2:p.Pro548=
ENST00000643924.1:c.1643C= ENSP00000495595.1:p.Pro548=
ENST00000655275.1:c.1670C= ENSP00000499510.1:p.Pro557=
ENST00000449082.2:c.1643C= ENSP00000390600.2:p.Pro548=
NM_001293306.2:c.1643C= NP_001280235.2:p.Pro548=
NM_001293307.2:c.1462-2147C= NP_001280236.2:n.1462-2147C=
NM_006514.3:c.1643C= NP_006505.3:p.Pro548=
XM_005265371.2:c.1652C= XP_005265428.1:p.Pro551=
XM_011533993.1:c.1652C= XP_011532295.1:p.Pro551=
XM_011533994.1:c.1471-2147C= XP_011532296.1:n.1471-2147C=
XM_005265371.3:c.1652C= XP_005265428.1:p.Pro551=
XM_011533993.2:c.1652C= XP_011532295.1:p.Pro551=
XM_011533994.2:c.1471-2147C= XP_011532296.1:n.1471-2147C=
NM_006514.4:c.1643C= MANE Select NP_006505.4:p.Pro548=