Canonical Allele Identifier: CA352156667
Gene: SCN10A HGNC NCBI

Linked Data

gnomAD v4: 3-38725217-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725217C>T , CM000665.2:g.38725217C>T GRCh38
NC_000003.11:g.38766708C>T , CM000665.1:g.38766708C>T GRCh37
NC_000003.10:g.38741712C>T NCBI36
NG_031891.2:g.73794G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3185G>A MANE Select ENSP00000390600.2:p.Gly1062Asp
ENST00000643924.1:c.3182G>A ENSP00000495595.1:p.Gly1061Asp
ENST00000655275.1:c.3209G>A ENSP00000499510.1:p.Gly1070Asp
ENST00000449082.2:c.3185G>A ENSP00000390600.2:p.Gly1062Asp
NM_001293306.2:c.3182G>A NP_001280235.2:p.Gly1061Asp
NM_001293307.2:c.2891G>A NP_001280236.2:p.Gly964Asp
NM_006514.3:c.3185G>A NP_006505.3:p.Gly1062Asp
XM_005265371.2:c.3194G>A XP_005265428.1:p.Gly1065Asp
XM_011533993.1:c.3191G>A XP_011532295.1:p.Gly1064Asp
XM_011533994.1:c.2900G>A XP_011532296.1:p.Gly967Asp
XM_005265371.3:c.3194G>A XP_005265428.1:p.Gly1065Asp
XM_011533993.2:c.3191G>A XP_011532295.1:p.Gly1064Asp
XM_011533994.2:c.2900G>A XP_011532296.1:p.Gly967Asp
NM_006514.4:c.3185G>A MANE Select NP_006505.4:p.Gly1062Asp