Canonical Allele Identifier: CA433138510
Gene: SCN10A HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.38766734A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725243A>C , CM000665.2:g.38725243A>C GRCh38
NC_000003.11:g.38766734A>C , CM000665.1:g.38766734A>C GRCh37
NC_000003.10:g.38741738A>C NCBI36
NG_031891.2:g.73768T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3159T>G MANE Select ENSP00000390600.2:p.Ser1053=
ENST00000643924.1:c.3156T>G ENSP00000495595.1:p.Ser1052=
ENST00000655275.1:c.3183T>G ENSP00000499510.1:p.Ser1061=
ENST00000449082.2:c.3159T>G ENSP00000390600.2:p.Ser1053=
NM_001293306.2:c.3156T>G NP_001280235.2:p.Ser1052=
NM_001293307.2:c.2865T>G NP_001280236.2:p.Ser955=
NM_006514.3:c.3159T>G NP_006505.3:p.Ser1053=
XM_005265371.2:c.3168T>G XP_005265428.1:p.Ser1056=
XM_011533993.1:c.3165T>G XP_011532295.1:p.Ser1055=
XM_011533994.1:c.2874T>G XP_011532296.1:p.Ser958=
XM_005265371.3:c.3168T>G XP_005265428.1:p.Ser1056=
XM_011533993.2:c.3165T>G XP_011532295.1:p.Ser1055=
XM_011533994.2:c.2874T>G XP_011532296.1:p.Ser958=
NM_006514.4:c.3159T>G MANE Select NP_006505.4:p.Ser1053=