Canonical Allele Identifier: CA352156674

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38766714G>T (hg19) ; chr3:g.38725223G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725223G>T , CM000665.2:g.38725223G>T	GRCh38
NC_000003.11:g.38766714G>T , CM000665.1:g.38766714G>T	GRCh37
NC_000003.10:g.38741718G>T	NCBI36
NG_031891.2:g.73788C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3179C>A MANE Select	ENSP00000390600.2:p.Ser1060Tyr
ENST00000643924.1:c.3176C>A	ENSP00000495595.1:p.Ser1059Tyr
ENST00000655275.1:c.3203C>A	ENSP00000499510.1:p.Ser1068Tyr
ENST00000449082.2:c.3179C>A	ENSP00000390600.2:p.Ser1060Tyr
NM_001293306.2:c.3176C>A	NP_001280235.2:p.Ser1059Tyr
NM_001293307.2:c.2885C>A	NP_001280236.2:p.Ser962Tyr
NM_006514.3:c.3179C>A	NP_006505.3:p.Ser1060Tyr
XM_005265371.2:c.3188C>A	XP_005265428.1:p.Ser1063Tyr
XM_011533993.1:c.3185C>A	XP_011532295.1:p.Ser1062Tyr
XM_011533994.1:c.2894C>A	XP_011532296.1:p.Ser965Tyr
XM_005265371.3:c.3188C>A	XP_005265428.1:p.Ser1063Tyr
XM_011533993.2:c.3185C>A	XP_011532295.1:p.Ser1062Tyr
XM_011533994.2:c.2894C>A	XP_011532296.1:p.Ser965Tyr
NM_006514.4:c.3179C>A MANE Select	NP_006505.4:p.Ser1060Tyr