Canonical Allele Identifier: CA1358640573
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725229G= , CM000665.2:g.38725229G= GRCh38
NC_000003.11:g.38766720G= , CM000665.1:g.38766720G= GRCh37
NC_000003.10:g.38741724G= NCBI36
NG_031891.2:g.73782C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3173C= MANE Select ENSP00000390600.2:p.Ala1058=
ENST00000643924.1:c.3170C= ENSP00000495595.1:p.Ala1057=
ENST00000655275.1:c.3197C= ENSP00000499510.1:p.Ala1066=
ENST00000449082.2:c.3173C= ENSP00000390600.2:p.Ala1058=
NM_001293306.2:c.3170C= NP_001280235.2:p.Ala1057=
NM_001293307.2:c.2879C= NP_001280236.2:p.Ala960=
NM_006514.3:c.3173C= NP_006505.3:p.Ala1058=
XM_005265371.2:c.3182C= XP_005265428.1:p.Ala1061=
XM_011533993.1:c.3179C= XP_011532295.1:p.Ala1060=
XM_011533994.1:c.2888C= XP_011532296.1:p.Ala963=
XM_005265371.3:c.3182C= XP_005265428.1:p.Ala1061=
XM_011533993.2:c.3179C= XP_011532295.1:p.Ala1060=
XM_011533994.2:c.2888C= XP_011532296.1:p.Ala963=
NM_006514.4:c.3173C= MANE Select NP_006505.4:p.Ala1058=