Canonical Allele Identifier: CA1358653319
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752465A= , CM000665.2:g.38752465A= GRCh38
NC_000003.11:g.38793956A= , CM000665.1:g.38793956A= GRCh37
NC_000003.10:g.38768960A= NCBI36
NG_031891.2:g.46546T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.1509T= MANE Select ENSP00000390600.2:p.Ser503=
ENST00000643924.1:c.1509T= ENSP00000495595.1:p.Ser503=
ENST00000655275.1:c.1536T= ENSP00000499510.1:p.Ser512=
ENST00000449082.2:c.1509T= ENSP00000390600.2:p.Ser503=
NM_001293306.2:c.1509T= NP_001280235.2:p.Ser503=
NM_001293307.2:c.1462-2281T= NP_001280236.2:n.1462-2281T=
NM_006514.3:c.1509T= NP_006505.3:p.Ser503=
XM_005265371.2:c.1518T= XP_005265428.1:p.Ser506=
XM_011533993.1:c.1518T= XP_011532295.1:p.Ser506=
XM_011533994.1:c.1471-2281T= XP_011532296.1:n.1471-2281T=
XM_005265371.3:c.1518T= XP_005265428.1:p.Ser506=
XM_011533993.2:c.1518T= XP_011532295.1:p.Ser506=
XM_011533994.2:c.1471-2281T= XP_011532296.1:n.1471-2281T=
NM_006514.4:c.1509T= MANE Select NP_006505.4:p.Ser503=