Canonical Allele Identifier: CA1358639189
Community Standard Title: NM_006514.4(SCN10A):c.3393C= (p.Thr1131=)
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38722372G= , CM000665.2:g.38722372G= GRCh38
NC_000003.11:g.38763863G= , CM000665.1:g.38763863G= GRCh37
NC_000003.10:g.38738867G= NCBI36
NG_031891.2:g.76639C=

Transcript Alleles

HGVS Amino-acid Change
NM_006514.4:c.3393C= MANE Select NP_006505.4:p.Thr1131=
ENST00000449082.3:c.3393C= MANE Select ENSP00000390600.2:p.Thr1131=
NM_001293306.2:c.3390C= NP_001280235.2:p.Thr1130=
NM_001293307.2:c.3099C= NP_001280236.2:p.Thr1033=
NM_006514.3:c.3393C= NP_006505.3:p.Thr1131=
ENST00000449082.2:c.3393C= ENSP00000390600.2:p.Thr1131=
ENST00000643924.1:c.3390C= ENSP00000495595.1:p.Thr1130=
ENST00000655275.1:c.3417C= ENSP00000499510.1:p.Thr1139=
XM_005265371.2:c.3402C= XP_005265428.1:p.Thr1134=
XM_005265371.3:c.3402C= XP_005265428.1:p.Thr1134=
XM_011533993.1:c.3399C= XP_011532295.1:p.Thr1133=
XM_011533993.2:c.3399C= XP_011532295.1:p.Thr1133=
XM_011533994.1:c.3108C= XP_011532296.1:p.Thr1036=
XM_011533994.2:c.3108C= XP_011532296.1:p.Thr1036=