Canonical Allele Identifier: CA352155213
Gene: SCN10A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38698322C>G , CM000665.2:g.38698322C>G GRCh38
NC_000003.11:g.38739813C>G , CM000665.1:g.38739813C>G GRCh37
NC_000003.10:g.38714817C>G NCBI36
NG_031891.2:g.100689G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.4898G>C MANE Select ENSP00000390600.2:p.Arg1633Thr
ENST00000643924.1:c.4895G>C ENSP00000495595.1:p.Arg1632Thr
ENST00000655275.1:c.4922G>C ENSP00000499510.1:p.Arg1641Thr
ENST00000449082.2:c.4898G>C ENSP00000390600.2:p.Arg1633Thr
NM_001293306.2:c.4895G>C NP_001280235.2:p.Arg1632Thr
NM_001293307.2:c.4604G>C NP_001280236.2:p.Arg1535Thr
NM_006514.3:c.4898G>C NP_006505.3:p.Arg1633Thr
XM_005265371.2:c.4907G>C XP_005265428.1:p.Arg1636Thr
XM_011533993.1:c.4904G>C XP_011532295.1:p.Arg1635Thr
XM_011533994.1:c.4613G>C XP_011532296.1:p.Arg1538Thr
XM_005265371.3:c.4907G>C XP_005265428.1:p.Arg1636Thr
XM_011533993.2:c.4904G>C XP_011532295.1:p.Arg1635Thr
XM_011533994.2:c.4613G>C XP_011532296.1:p.Arg1538Thr
NM_006514.4:c.4898G>C MANE Select NP_006505.4:p.Arg1633Thr