Canonical Allele Identifier: CA1358653315
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752461A= , CM000665.2:g.38752461A= GRCh38
NC_000003.11:g.38793952A= , CM000665.1:g.38793952A= GRCh37
NC_000003.10:g.38768956A= NCBI36
NG_031891.2:g.46550T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.1513T= MANE Select ENSP00000390600.2:p.Phe505=
ENST00000643924.1:c.1513T= ENSP00000495595.1:p.Phe505=
ENST00000655275.1:c.1540T= ENSP00000499510.1:p.Phe514=
ENST00000449082.2:c.1513T= ENSP00000390600.2:p.Phe505=
NM_001293306.2:c.1513T= NP_001280235.2:p.Phe505=
NM_001293307.2:c.1462-2277T= NP_001280236.2:n.1462-2277T=
NM_006514.3:c.1513T= NP_006505.3:p.Phe505=
XM_005265371.2:c.1522T= XP_005265428.1:p.Phe508=
XM_011533993.1:c.1522T= XP_011532295.1:p.Phe508=
XM_011533994.1:c.1471-2277T= XP_011532296.1:n.1471-2277T=
XM_005265371.3:c.1522T= XP_005265428.1:p.Phe508=
XM_011533993.2:c.1522T= XP_011532295.1:p.Phe508=
XM_011533994.2:c.1471-2277T= XP_011532296.1:n.1471-2277T=
NM_006514.4:c.1513T= MANE Select NP_006505.4:p.Phe505=