Canonical Allele Identifier: CA433138508
Gene: SCN10A HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.38766731A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725240A>G , CM000665.2:g.38725240A>G GRCh38
NC_000003.11:g.38766731A>G , CM000665.1:g.38766731A>G GRCh37
NC_000003.10:g.38741735A>G NCBI36
NG_031891.2:g.73771T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3162T>C MANE Select ENSP00000390600.2:p.Ser1054=
ENST00000643924.1:c.3159T>C ENSP00000495595.1:p.Ser1053=
ENST00000655275.1:c.3186T>C ENSP00000499510.1:p.Ser1062=
ENST00000449082.2:c.3162T>C ENSP00000390600.2:p.Ser1054=
NM_001293306.2:c.3159T>C NP_001280235.2:p.Ser1053=
NM_001293307.2:c.2868T>C NP_001280236.2:p.Ser956=
NM_006514.3:c.3162T>C NP_006505.3:p.Ser1054=
XM_005265371.2:c.3171T>C XP_005265428.1:p.Ser1057=
XM_011533993.1:c.3168T>C XP_011532295.1:p.Ser1056=
XM_011533994.1:c.2877T>C XP_011532296.1:p.Ser959=
XM_005265371.3:c.3171T>C XP_005265428.1:p.Ser1057=
XM_011533993.2:c.3168T>C XP_011532295.1:p.Ser1056=
XM_011533994.2:c.2877T>C XP_011532296.1:p.Ser959=
NM_006514.4:c.3162T>C MANE Select NP_006505.4:p.Ser1054=