Canonical Allele Identifier: CA433138539
Gene: SCN10A HGNC NCBI

Linked Data

dbSNP Id: rs1226200657

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725276G>A , CM000665.2:g.38725276G>A GRCh38
NC_000003.11:g.38766767G>A , CM000665.1:g.38766767G>A GRCh37
NC_000003.10:g.38741771G>A NCBI36
NG_031891.2:g.73735C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3126C>T MANE Select ENSP00000390600.2:p.His1042=
ENST00000643924.1:c.3123C>T ENSP00000495595.1:p.His1041=
ENST00000655275.1:c.3150C>T ENSP00000499510.1:p.His1050=
ENST00000449082.2:c.3126C>T ENSP00000390600.2:p.His1042=
NM_001293306.2:c.3123C>T NP_001280235.2:p.His1041=
NM_001293307.2:c.2832C>T NP_001280236.2:p.His944=
NM_006514.3:c.3126C>T NP_006505.3:p.His1042=
XM_005265371.2:c.3135C>T XP_005265428.1:p.His1045=
XM_011533993.1:c.3132C>T XP_011532295.1:p.His1044=
XM_011533994.1:c.2841C>T XP_011532296.1:p.His947=
XM_005265371.3:c.3135C>T XP_005265428.1:p.His1045=
XM_011533993.2:c.3132C>T XP_011532295.1:p.His1044=
XM_011533994.2:c.2841C>T XP_011532296.1:p.His947=
NM_006514.4:c.3126C>T MANE Select NP_006505.4:p.His1042=