Canonical Allele Identifier: CA352156653
Gene: SCN10A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725209A>T , CM000665.2:g.38725209A>T GRCh38
NC_000003.11:g.38766700A>T , CM000665.1:g.38766700A>T GRCh37
NC_000003.10:g.38741704A>T NCBI36
NG_031891.2:g.73802T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3193T>A MANE Select ENSP00000390600.2:p.Trp1065Arg
ENST00000643924.1:c.3190T>A ENSP00000495595.1:p.Trp1064Arg
ENST00000655275.1:c.3217T>A ENSP00000499510.1:p.Trp1073Arg
ENST00000449082.2:c.3193T>A ENSP00000390600.2:p.Trp1065Arg
NM_001293306.2:c.3190T>A NP_001280235.2:p.Trp1064Arg
NM_001293307.2:c.2899T>A NP_001280236.2:p.Trp967Arg
NM_006514.3:c.3193T>A NP_006505.3:p.Trp1065Arg
XM_005265371.2:c.3202T>A XP_005265428.1:p.Trp1068Arg
XM_011533993.1:c.3199T>A XP_011532295.1:p.Trp1067Arg
XM_011533994.1:c.2908T>A XP_011532296.1:p.Trp970Arg
XM_005265371.3:c.3202T>A XP_005265428.1:p.Trp1068Arg
XM_011533993.2:c.3199T>A XP_011532295.1:p.Trp1067Arg
XM_011533994.2:c.2908T>A XP_011532296.1:p.Trp970Arg
NM_006514.4:c.3193T>A MANE Select NP_006505.4:p.Trp1065Arg