Canonical Allele Identifier: CA352156659

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38766704C>A (hg19) ; chr3:g.38725213C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725213C>A , CM000665.2:g.38725213C>A	GRCh38
NC_000003.11:g.38766704C>A , CM000665.1:g.38766704C>A	GRCh37
NC_000003.10:g.38741708C>A	NCBI36
NG_031891.2:g.73798G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3189G>T MANE Select	ENSP00000390600.2:p.Glu1063Asp
ENST00000643924.1:c.3186G>T	ENSP00000495595.1:p.Glu1062Asp
ENST00000655275.1:c.3213G>T	ENSP00000499510.1:p.Glu1071Asp
ENST00000449082.2:c.3189G>T	ENSP00000390600.2:p.Glu1063Asp
NM_001293306.2:c.3186G>T	NP_001280235.2:p.Glu1062Asp
NM_001293307.2:c.2895G>T	NP_001280236.2:p.Glu965Asp
NM_006514.3:c.3189G>T	NP_006505.3:p.Glu1063Asp
XM_005265371.2:c.3198G>T	XP_005265428.1:p.Glu1066Asp
XM_011533993.1:c.3195G>T	XP_011532295.1:p.Glu1065Asp
XM_011533994.1:c.2904G>T	XP_011532296.1:p.Glu968Asp
XM_005265371.3:c.3198G>T	XP_005265428.1:p.Glu1066Asp
XM_011533993.2:c.3195G>T	XP_011532295.1:p.Glu1065Asp
XM_011533994.2:c.2904G>T	XP_011532296.1:p.Glu968Asp
NM_006514.4:c.3189G>T MANE Select	NP_006505.4:p.Glu1063Asp