Canonical Allele Identifier: CA433138497
Gene: SCN10A HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.38766716T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725225T>A , CM000665.2:g.38725225T>A GRCh38
NC_000003.11:g.38766716T>A , CM000665.1:g.38766716T>A GRCh37
NC_000003.10:g.38741720T>A NCBI36
NG_031891.2:g.73786A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3177A>T MANE Select ENSP00000390600.2:p.Pro1059=
ENST00000643924.1:c.3174A>T ENSP00000495595.1:p.Pro1058=
ENST00000655275.1:c.3201A>T ENSP00000499510.1:p.Pro1067=
ENST00000449082.2:c.3177A>T ENSP00000390600.2:p.Pro1059=
NM_001293306.2:c.3174A>T NP_001280235.2:p.Pro1058=
NM_001293307.2:c.2883A>T NP_001280236.2:p.Pro961=
NM_006514.3:c.3177A>T NP_006505.3:p.Pro1059=
XM_005265371.2:c.3186A>T XP_005265428.1:p.Pro1062=
XM_011533993.1:c.3183A>T XP_011532295.1:p.Pro1061=
XM_011533994.1:c.2892A>T XP_011532296.1:p.Pro964=
XM_005265371.3:c.3186A>T XP_005265428.1:p.Pro1062=
XM_011533993.2:c.3183A>T XP_011532295.1:p.Pro1061=
XM_011533994.2:c.2892A>T XP_011532296.1:p.Pro964=
NM_006514.4:c.3177A>T MANE Select NP_006505.4:p.Pro1059=