Canonical Allele Identifier: CA352156766
Gene: SCN10A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725271G>T , CM000665.2:g.38725271G>T GRCh38
NC_000003.11:g.38766762G>T , CM000665.1:g.38766762G>T GRCh37
NC_000003.10:g.38741766G>T NCBI36
NG_031891.2:g.73740C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3131C>A MANE Select ENSP00000390600.2:p.Thr1044Lys
ENST00000643924.1:c.3128C>A ENSP00000495595.1:p.Thr1043Lys
ENST00000655275.1:c.3155C>A ENSP00000499510.1:p.Thr1052Lys
ENST00000449082.2:c.3131C>A ENSP00000390600.2:p.Thr1044Lys
NM_001293306.2:c.3128C>A NP_001280235.2:p.Thr1043Lys
NM_001293307.2:c.2837C>A NP_001280236.2:p.Thr946Lys
NM_006514.3:c.3131C>A NP_006505.3:p.Thr1044Lys
XM_005265371.2:c.3140C>A XP_005265428.1:p.Thr1047Lys
XM_011533993.1:c.3137C>A XP_011532295.1:p.Thr1046Lys
XM_011533994.1:c.2846C>A XP_011532296.1:p.Thr949Lys
XM_005265371.3:c.3140C>A XP_005265428.1:p.Thr1047Lys
XM_011533993.2:c.3137C>A XP_011532295.1:p.Thr1046Lys
XM_011533994.2:c.2846C>A XP_011532296.1:p.Thr949Lys
NM_006514.4:c.3131C>A MANE Select NP_006505.4:p.Thr1044Lys