Canonical Allele Identifier: CA2320072

Gene: SCN10A

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_006514.4:c.3910G>T MANE Select	NP_006505.4:p.Ala1304Ser
ENST00000449082.3:c.3910G>T MANE Select	ENSP00000390600.2:p.Ala1304Ser
NM_001293306.2:c.3907G>T	NP_001280235.2:p.Ala1303Ser
NM_001293307.2:c.3616G>T	NP_001280236.2:p.Ala1206Ser
NM_006514.3:c.3910G>T	NP_006505.3:p.Ala1304Ser
ENST00000449082.2:c.3910G>T	ENSP00000390600.2:p.Ala1304Ser
ENST00000643924.1:c.3907G>T	ENSP00000495595.1:p.Ala1303Ser
ENST00000655275.1:c.3934G>T	ENSP00000499510.1:p.Ala1312Ser
XM_005265371.2:c.3919G>T	XP_005265428.1:p.Ala1307Ser
XM_005265371.3:c.3919G>T	XP_005265428.1:p.Ala1307Ser
XM_011533993.1:c.3916G>T	XP_011532295.1:p.Ala1306Ser
XM_011533993.2:c.3916G>T	XP_011532295.1:p.Ala1306Ser
XM_011533994.1:c.3625G>T	XP_011532296.1:p.Ala1209Ser
XM_011533994.2:c.3625G>T	XP_011532296.1:p.Ala1209Ser