Canonical Allele Identifier: CA352151194
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38712340C>G , CM000665.2:g.38712340C>G GRCh38
NC_000003.11:g.38753831C>G , CM000665.1:g.38753831C>G GRCh37
NC_000003.10:g.38728835C>G NCBI36
NG_031891.2:g.86671G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006514.4:c.3910G>C MANE Select NP_006505.4:p.Ala1304Pro
ENST00000449082.3:c.3910G>C MANE Select ENSP00000390600.2:p.Ala1304Pro
NM_001293306.2:c.3907G>C NP_001280235.2:p.Ala1303Pro
NM_001293307.2:c.3616G>C NP_001280236.2:p.Ala1206Pro
NM_006514.3:c.3910G>C NP_006505.3:p.Ala1304Pro
ENST00000449082.2:c.3910G>C ENSP00000390600.2:p.Ala1304Pro
ENST00000643924.1:c.3907G>C ENSP00000495595.1:p.Ala1303Pro
ENST00000655275.1:c.3934G>C ENSP00000499510.1:p.Ala1312Pro
XM_005265371.2:c.3919G>C XP_005265428.1:p.Ala1307Pro
XM_005265371.3:c.3919G>C XP_005265428.1:p.Ala1307Pro
XM_011533993.1:c.3916G>C XP_011532295.1:p.Ala1306Pro
XM_011533993.2:c.3916G>C XP_011532295.1:p.Ala1306Pro
XM_011533994.1:c.3625G>C XP_011532296.1:p.Ala1209Pro
XM_011533994.2:c.3625G>C XP_011532296.1:p.Ala1209Pro