Canonical Allele Identifier: CA352155406

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38739858A>T (hg19) ; chr3:g.38698367A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38698367A>T , CM000665.2:g.38698367A>T	GRCh38
NC_000003.11:g.38739858A>T , CM000665.1:g.38739858A>T	GRCh37
NC_000003.10:g.38714862A>T	NCBI36
NG_031891.2:g.100644T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.4853T>A MANE Select	ENSP00000390600.2:p.Met1618Lys
ENST00000643924.1:c.4850T>A	ENSP00000495595.1:p.Met1617Lys
ENST00000655275.1:c.4877T>A	ENSP00000499510.1:p.Met1626Lys
ENST00000449082.2:c.4853T>A	ENSP00000390600.2:p.Met1618Lys
NM_001293306.2:c.4850T>A	NP_001280235.2:p.Met1617Lys
NM_001293307.2:c.4559T>A	NP_001280236.2:p.Met1520Lys
NM_006514.3:c.4853T>A	NP_006505.3:p.Met1618Lys
XM_005265371.2:c.4862T>A	XP_005265428.1:p.Met1621Lys
XM_011533993.1:c.4859T>A	XP_011532295.1:p.Met1620Lys
XM_011533994.1:c.4568T>A	XP_011532296.1:p.Met1523Lys
XM_005265371.3:c.4862T>A	XP_005265428.1:p.Met1621Lys
XM_011533993.2:c.4859T>A	XP_011532295.1:p.Met1620Lys
XM_011533994.2:c.4568T>A	XP_011532296.1:p.Met1523Lys
NM_006514.4:c.4853T>A MANE Select	NP_006505.4:p.Met1618Lys