Canonical Allele Identifier: CA352167573
Gene: SCN10A HGNC NCBI

Linked Data

gnomAD v4: 3-38752420-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752420C>A , CM000665.2:g.38752420C>A GRCh38
NC_000003.11:g.38793911C>A , CM000665.1:g.38793911C>A GRCh37
NC_000003.10:g.38768915C>A NCBI36
NG_031891.2:g.46591G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.1554G>T MANE Select ENSP00000390600.2:p.Glu518Asp
ENST00000643924.1:c.1554G>T ENSP00000495595.1:p.Glu518Asp
ENST00000655275.1:c.1581G>T ENSP00000499510.1:p.Glu527Asp
ENST00000449082.2:c.1554G>T ENSP00000390600.2:p.Glu518Asp
NM_001293306.2:c.1554G>T NP_001280235.2:p.Glu518Asp
NM_001293307.2:c.1462-2236G>T NP_001280236.2:n.1462-2236G>T
NM_006514.3:c.1554G>T NP_006505.3:p.Glu518Asp
XM_005265371.2:c.1563G>T XP_005265428.1:p.Glu521Asp
XM_011533993.1:c.1563G>T XP_011532295.1:p.Glu521Asp
XM_011533994.1:c.1471-2236G>T XP_011532296.1:n.1471-2236G>T
XM_005265371.3:c.1563G>T XP_005265428.1:p.Glu521Asp
XM_011533993.2:c.1563G>T XP_011532295.1:p.Glu521Asp
XM_011533994.2:c.1471-2236G>T XP_011532296.1:n.1471-2236G>T
NM_006514.4:c.1554G>T MANE Select NP_006505.4:p.Glu518Asp