Canonical Allele Identifier: CA352156629
Gene: SCN10A HGNC NCBI

Linked Data

gnomAD v4: 3-38725201-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725201A>C , CM000665.2:g.38725201A>C GRCh38
NC_000003.11:g.38766692A>C , CM000665.1:g.38766692A>C GRCh37
NC_000003.10:g.38741696A>C NCBI36
NG_031891.2:g.73810T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3201T>G MANE Select ENSP00000390600.2:p.Asp1067Glu
ENST00000643924.1:c.3198T>G ENSP00000495595.1:p.Asp1066Glu
ENST00000655275.1:c.3225T>G ENSP00000499510.1:p.Asp1075Glu
ENST00000449082.2:c.3201T>G ENSP00000390600.2:p.Asp1067Glu
NM_001293306.2:c.3198T>G NP_001280235.2:p.Asp1066Glu
NM_001293307.2:c.2907T>G NP_001280236.2:p.Asp969Glu
NM_006514.3:c.3201T>G NP_006505.3:p.Asp1067Glu
XM_005265371.2:c.3210T>G XP_005265428.1:p.Asp1070Glu
XM_011533993.1:c.3207T>G XP_011532295.1:p.Asp1069Glu
XM_011533994.1:c.2916T>G XP_011532296.1:p.Asp972Glu
XM_005265371.3:c.3210T>G XP_005265428.1:p.Asp1070Glu
XM_011533993.2:c.3207T>G XP_011532295.1:p.Asp1069Glu
XM_011533994.2:c.2916T>G XP_011532296.1:p.Asp972Glu
NM_006514.4:c.3201T>G MANE Select NP_006505.4:p.Asp1067Glu