Canonical Allele Identifier: CA433138520
Gene: SCN10A HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.38766743A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725252A>T , CM000665.2:g.38725252A>T GRCh38
NC_000003.11:g.38766743A>T , CM000665.1:g.38766743A>T GRCh37
NC_000003.10:g.38741747A>T NCBI36
NG_031891.2:g.73759T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3150T>A MANE Select ENSP00000390600.2:p.Thr1050=
ENST00000643924.1:c.3147T>A ENSP00000495595.1:p.Thr1049=
ENST00000655275.1:c.3174T>A ENSP00000499510.1:p.Thr1058=
ENST00000449082.2:c.3150T>A ENSP00000390600.2:p.Thr1050=
NM_001293306.2:c.3147T>A NP_001280235.2:p.Thr1049=
NM_001293307.2:c.2856T>A NP_001280236.2:p.Thr952=
NM_006514.3:c.3150T>A NP_006505.3:p.Thr1050=
XM_005265371.2:c.3159T>A XP_005265428.1:p.Thr1053=
XM_011533993.1:c.3156T>A XP_011532295.1:p.Thr1052=
XM_011533994.1:c.2865T>A XP_011532296.1:p.Thr955=
XM_005265371.3:c.3159T>A XP_005265428.1:p.Thr1053=
XM_011533993.2:c.3156T>A XP_011532295.1:p.Thr1052=
XM_011533994.2:c.2865T>A XP_011532296.1:p.Thr955=
NM_006514.4:c.3150T>A MANE Select NP_006505.4:p.Thr1050=