Canonical Allele Identifier: CA352156113
Gene: SCN10A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38723453T>G , CM000665.2:g.38723453T>G GRCh38
NC_000003.11:g.38764944T>G , CM000665.1:g.38764944T>G GRCh37
NC_000003.10:g.38739948T>G NCBI36
NG_031891.2:g.75558A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3329A>C MANE Select ENSP00000390600.2:p.Glu1110Ala
ENST00000643924.1:c.3326A>C ENSP00000495595.1:p.Glu1109Ala
ENST00000655275.1:c.3353A>C ENSP00000499510.1:p.Glu1118Ala
ENST00000449082.2:c.3329A>C ENSP00000390600.2:p.Glu1110Ala
NM_001293306.2:c.3326A>C NP_001280235.2:p.Glu1109Ala
NM_001293307.2:c.3035A>C NP_001280236.2:p.Glu1012Ala
NM_006514.3:c.3329A>C NP_006505.3:p.Glu1110Ala
XM_005265371.2:c.3338A>C XP_005265428.1:p.Glu1113Ala
XM_011533993.1:c.3335A>C XP_011532295.1:p.Glu1112Ala
XM_011533994.1:c.3044A>C XP_011532296.1:p.Glu1015Ala
XM_005265371.3:c.3338A>C XP_005265428.1:p.Glu1113Ala
XM_011533993.2:c.3335A>C XP_011532295.1:p.Glu1112Ala
XM_011533994.2:c.3044A>C XP_011532296.1:p.Glu1015Ala
NM_006514.4:c.3329A>C MANE Select NP_006505.4:p.Glu1110Ala