Canonical Allele Identifier: CA3105462477
Community Standard Title: NM_006514.4(SCN10A):c.671A= (p.Lys224=)
Gene: SCN10A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38763525T= , CM000665.2:g.38763525T= GRCh38
NC_000003.11:g.38805016T= , CM000665.1:g.38805016T= GRCh37
NC_000003.10:g.38780020T= NCBI36
NG_031891.2:g.35486A=

Transcript Alleles

HGVS Amino-acid Change
NM_006514.4:c.671A= MANE Select NP_006505.4:p.Lys224=
ENST00000449082.3:c.671A= MANE Select ENSP00000390600.2:p.Lys224=
NM_001293306.2:c.671A= NP_001280235.2:p.Lys224=
NM_001293307.2:c.671A= NP_001280236.2:p.Lys224=
NM_006514.3:c.671A= NP_006505.3:p.Lys224=
ENST00000449082.2:c.671A= ENSP00000390600.2:p.Lys224=
ENST00000643924.1:c.671A= ENSP00000495595.1:p.Lys224=
ENST00000655275.1:c.671A= ENSP00000499510.1:p.Lys224=
XM_005265371.2:c.680A= XP_005265428.1:p.Lys227=
XM_005265371.3:c.680A= XP_005265428.1:p.Lys227=
XM_011533993.1:c.680A= XP_011532295.1:p.Lys227=
XM_011533993.2:c.680A= XP_011532295.1:p.Lys227=
XM_011533994.1:c.680A= XP_011532296.1:p.Lys227=
XM_011533994.2:c.680A= XP_011532296.1:p.Lys227=