Canonical Allele Identifier: CA352167179
Gene: SCN10A HGNC NCBI

Linked Data

gnomAD v4: 3-38752273-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752273A>T , CM000665.2:g.38752273A>T GRCh38
NC_000003.11:g.38793764A>T , CM000665.1:g.38793764A>T GRCh37
NC_000003.10:g.38768768A>T NCBI36
NG_031891.2:g.46738T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.1701T>A MANE Select ENSP00000390600.2:p.Asp567Glu
ENST00000643924.1:c.1701T>A ENSP00000495595.1:p.Asp567Glu
ENST00000655275.1:c.1728T>A ENSP00000499510.1:p.Asp576Glu
ENST00000449082.2:c.1701T>A ENSP00000390600.2:p.Asp567Glu
NM_001293306.2:c.1701T>A NP_001280235.2:p.Asp567Glu
NM_001293307.2:c.1462-2089T>A NP_001280236.2:n.1462-2089T>A
NM_006514.3:c.1701T>A NP_006505.3:p.Asp567Glu
XM_005265371.2:c.1710T>A XP_005265428.1:p.Asp570Glu
XM_011533993.1:c.1710T>A XP_011532295.1:p.Asp570Glu
XM_011533994.1:c.1471-2089T>A XP_011532296.1:n.1471-2089T>A
XM_005265371.3:c.1710T>A XP_005265428.1:p.Asp570Glu
XM_011533993.2:c.1710T>A XP_011532295.1:p.Asp570Glu
XM_011533994.2:c.1471-2089T>A XP_011532296.1:n.1471-2089T>A
NM_006514.4:c.1701T>A MANE Select NP_006505.4:p.Asp567Glu