Canonical Allele Identifier: CA1358653218
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752262G= , CM000665.2:g.38752262G= GRCh38
NC_000003.11:g.38793753G= , CM000665.1:g.38793753G= GRCh37
NC_000003.10:g.38768757G= NCBI36
NG_031891.2:g.46749C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.1712C= MANE Select ENSP00000390600.2:p.Pro571=
ENST00000643924.1:c.1712C= ENSP00000495595.1:p.Pro571=
ENST00000655275.1:c.1739C= ENSP00000499510.1:p.Pro580=
ENST00000449082.2:c.1712C= ENSP00000390600.2:p.Pro571=
NM_001293306.2:c.1712C= NP_001280235.2:p.Pro571=
NM_001293307.2:c.1462-2078C= NP_001280236.2:n.1462-2078C=
NM_006514.3:c.1712C= NP_006505.3:p.Pro571=
XM_005265371.2:c.1721C= XP_005265428.1:p.Pro574=
XM_011533993.1:c.1721C= XP_011532295.1:p.Pro574=
XM_011533994.1:c.1471-2078C= XP_011532296.1:n.1471-2078C=
XM_005265371.3:c.1721C= XP_005265428.1:p.Pro574=
XM_011533993.2:c.1721C= XP_011532295.1:p.Pro574=
XM_011533994.2:c.1471-2078C= XP_011532296.1:n.1471-2078C=
NM_006514.4:c.1712C= MANE Select NP_006505.4:p.Pro571=