Canonical Allele Identifier: CA352156832
Gene: SCN10A HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3101A>T MANE Select ENSP00000390600.2:p.Gln1034Leu
ENST00000643924.1:c.3098A>T ENSP00000495595.1:p.Gln1033Leu
ENST00000655275.1:c.3125A>T ENSP00000499510.1:p.Gln1042Leu
ENST00000449082.2:c.3101A>T ENSP00000390600.2:p.Gln1034Leu
NM_001293306.2:c.3098A>T NP_001280235.2:p.Gln1033Leu
NM_001293307.2:c.2807A>T NP_001280236.2:p.Gln936Leu
NM_006514.3:c.3101A>T NP_006505.3:p.Gln1034Leu
XM_005265371.2:c.3110A>T XP_005265428.1:p.Gln1037Leu
XM_011533993.1:c.3107A>T XP_011532295.1:p.Gln1036Leu
XM_011533994.1:c.2816A>T XP_011532296.1:p.Gln939Leu
XM_005265371.3:c.3110A>T XP_005265428.1:p.Gln1037Leu
XM_011533993.2:c.3107A>T XP_011532295.1:p.Gln1036Leu
XM_011533994.2:c.2816A>T XP_011532296.1:p.Gln939Leu
NM_006514.4:c.3101A>T MANE Select NP_006505.4:p.Gln1034Leu