Canonical Allele Identifier: CA1358653243
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752325G= , CM000665.2:g.38752325G= GRCh38
NC_000003.11:g.38793816G= , CM000665.1:g.38793816G= GRCh37
NC_000003.10:g.38768820G= NCBI36
NG_031891.2:g.46686C=

Transcript Alleles

HGVS Amino-acid change
ENST00000449082.3:c.1649C= MANE Select ENSP00000390600.2:p.Pro550=
ENST00000643924.1:c.1649C= ENSP00000495595.1:p.Pro550=
ENST00000655275.1:c.1676C= ENSP00000499510.1:p.Pro559=
ENST00000449082.2:c.1649C= ENSP00000390600.2:p.Pro550=
NM_001293306.2:c.1649C= NP_001280235.2:p.Pro550=
NM_001293307.2:c.1462-2141C= NP_001280236.2:n.1462-2141C=
NM_006514.3:c.1649C= NP_006505.3:p.Pro550=
XM_005265371.2:c.1658C= XP_005265428.1:p.Pro553=
XM_011533993.1:c.1658C= XP_011532295.1:p.Pro553=
XM_011533994.1:c.1471-2141C= XP_011532296.1:n.1471-2141C=
XM_005265371.3:c.1658C= XP_005265428.1:p.Pro553=
XM_011533993.2:c.1658C= XP_011532295.1:p.Pro553=
XM_011533994.2:c.1471-2141C= XP_011532296.1:n.1471-2141C=
NM_006514.4:c.1649C= MANE Select NP_006505.4:p.Pro550=