Canonical Allele Identifier: CA1358653346
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752512A= , CM000665.2:g.38752512A= GRCh38
NC_000003.11:g.38794003A= , CM000665.1:g.38794003A= GRCh37
NC_000003.10:g.38769007A= NCBI36
NG_031891.2:g.46499T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.1462T= MANE Select ENSP00000390600.2:p.Ser488=
ENST00000643924.1:c.1462T= ENSP00000495595.1:p.Ser488=
ENST00000655275.1:c.1489T= ENSP00000499510.1:p.Ser497=
ENST00000449082.2:c.1462T= ENSP00000390600.2:p.Ser488=
NM_001293306.2:c.1462T= NP_001280235.2:p.Ser488=
NM_001293307.2:c.1462-2328T= NP_001280236.2:n.1462-2328T=
NM_006514.3:c.1462T= NP_006505.3:p.Ser488=
XM_005265371.2:c.1471T= XP_005265428.1:p.Ser491=
XM_011533993.1:c.1471T= XP_011532295.1:p.Ser491=
XM_011533994.1:c.1471-2328T= XP_011532296.1:n.1471-2328T=
XM_005265371.3:c.1471T= XP_005265428.1:p.Ser491=
XM_011533993.2:c.1471T= XP_011532295.1:p.Ser491=
XM_011533994.2:c.1471-2328T= XP_011532296.1:n.1471-2328T=
NM_006514.4:c.1462T= MANE Select NP_006505.4:p.Ser488=