Canonical Allele Identifier: CA352156657
Gene: SCN10A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725212T>G , CM000665.2:g.38725212T>G GRCh38
NC_000003.11:g.38766703T>G , CM000665.1:g.38766703T>G GRCh37
NC_000003.10:g.38741707T>G NCBI36
NG_031891.2:g.73799A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3190A>C MANE Select ENSP00000390600.2:p.Thr1064Pro
ENST00000643924.1:c.3187A>C ENSP00000495595.1:p.Thr1063Pro
ENST00000655275.1:c.3214A>C ENSP00000499510.1:p.Thr1072Pro
ENST00000449082.2:c.3190A>C ENSP00000390600.2:p.Thr1064Pro
NM_001293306.2:c.3187A>C NP_001280235.2:p.Thr1063Pro
NM_001293307.2:c.2896A>C NP_001280236.2:p.Thr966Pro
NM_006514.3:c.3190A>C NP_006505.3:p.Thr1064Pro
XM_005265371.2:c.3199A>C XP_005265428.1:p.Thr1067Pro
XM_011533993.1:c.3196A>C XP_011532295.1:p.Thr1066Pro
XM_011533994.1:c.2905A>C XP_011532296.1:p.Thr969Pro
XM_005265371.3:c.3199A>C XP_005265428.1:p.Thr1067Pro
XM_011533993.2:c.3196A>C XP_011532295.1:p.Thr1066Pro
XM_011533994.2:c.2905A>C XP_011532296.1:p.Thr969Pro
NM_006514.4:c.3190A>C MANE Select NP_006505.4:p.Thr1064Pro