Canonical Allele Identifier: CA352156325

Gene: SCN10A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38723507A>T , CM000665.2:g.38723507A>T	GRCh38
NC_000003.11:g.38764998A>T , CM000665.1:g.38764998A>T	GRCh37
NC_000003.10:g.38740002A>T	NCBI36
NG_031891.2:g.75504T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006514.4:c.3275T>A MANE Select	NP_006505.4:p.Leu1092Gln
ENST00000449082.3:c.3275T>A MANE Select	ENSP00000390600.2:p.Leu1092Gln
NM_001293306.2:c.3272T>A	NP_001280235.2:p.Leu1091Gln
NM_001293307.2:c.2981T>A	NP_001280236.2:p.Leu994Gln
NM_006514.3:c.3275T>A	NP_006505.3:p.Leu1092Gln
ENST00000449082.2:c.3275T>A	ENSP00000390600.2:p.Leu1092Gln
ENST00000643924.1:c.3272T>A	ENSP00000495595.1:p.Leu1091Gln
ENST00000655275.1:c.3299T>A	ENSP00000499510.1:p.Leu1100Gln
XM_005265371.2:c.3284T>A	XP_005265428.1:p.Leu1095Gln
XM_005265371.3:c.3284T>A	XP_005265428.1:p.Leu1095Gln
XM_011533993.1:c.3281T>A	XP_011532295.1:p.Leu1094Gln
XM_011533993.2:c.3281T>A	XP_011532295.1:p.Leu1094Gln
XM_011533994.1:c.2990T>A	XP_011532296.1:p.Leu997Gln
XM_011533994.2:c.2990T>A	XP_011532296.1:p.Leu997Gln