Canonical Allele Identifier: CA352156834
Gene: SCN10A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725301T>G , CM000665.2:g.38725301T>G GRCh38
NC_000003.11:g.38766792T>G , CM000665.1:g.38766792T>G GRCh37
NC_000003.10:g.38741796T>G NCBI36
NG_031891.2:g.73710A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3101A>C MANE Select ENSP00000390600.2:p.Gln1034Pro
ENST00000643924.1:c.3098A>C ENSP00000495595.1:p.Gln1033Pro
ENST00000655275.1:c.3125A>C ENSP00000499510.1:p.Gln1042Pro
ENST00000449082.2:c.3101A>C ENSP00000390600.2:p.Gln1034Pro
NM_001293306.2:c.3098A>C NP_001280235.2:p.Gln1033Pro
NM_001293307.2:c.2807A>C NP_001280236.2:p.Gln936Pro
NM_006514.3:c.3101A>C NP_006505.3:p.Gln1034Pro
XM_005265371.2:c.3110A>C XP_005265428.1:p.Gln1037Pro
XM_011533993.1:c.3107A>C XP_011532295.1:p.Gln1036Pro
XM_011533994.1:c.2816A>C XP_011532296.1:p.Gln939Pro
XM_005265371.3:c.3110A>C XP_005265428.1:p.Gln1037Pro
XM_011533993.2:c.3107A>C XP_011532295.1:p.Gln1036Pro
XM_011533994.2:c.2816A>C XP_011532296.1:p.Gln939Pro
NM_006514.4:c.3101A>C MANE Select NP_006505.4:p.Gln1034Pro