Canonical Allele Identifier: CA352156696

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38766726T>A (hg19) ; chr3:g.38725235T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725235T>A , CM000665.2:g.38725235T>A	GRCh38
NC_000003.11:g.38766726T>A , CM000665.1:g.38766726T>A	GRCh37
NC_000003.10:g.38741730T>A	NCBI36
NG_031891.2:g.73776A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3167A>T MANE Select	ENSP00000390600.2:p.Asp1056Val
ENST00000643924.1:c.3164A>T	ENSP00000495595.1:p.Asp1055Val
ENST00000655275.1:c.3191A>T	ENSP00000499510.1:p.Asp1064Val
ENST00000449082.2:c.3167A>T	ENSP00000390600.2:p.Asp1056Val
NM_001293306.2:c.3164A>T	NP_001280235.2:p.Asp1055Val
NM_001293307.2:c.2873A>T	NP_001280236.2:p.Asp958Val
NM_006514.3:c.3167A>T	NP_006505.3:p.Asp1056Val
XM_005265371.2:c.3176A>T	XP_005265428.1:p.Asp1059Val
XM_011533993.1:c.3173A>T	XP_011532295.1:p.Asp1058Val
XM_011533994.1:c.2882A>T	XP_011532296.1:p.Asp961Val
XM_005265371.3:c.3176A>T	XP_005265428.1:p.Asp1059Val
XM_011533993.2:c.3173A>T	XP_011532295.1:p.Asp1058Val
XM_011533994.2:c.2882A>T	XP_011532296.1:p.Asp961Val
NM_006514.4:c.3167A>T MANE Select	NP_006505.4:p.Asp1056Val