Canonical Allele Identifier: CA433334648

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38793902T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752411T>A , CM000665.2:g.38752411T>A	GRCh38
NC_000003.11:g.38793902T>A , CM000665.1:g.38793902T>A	GRCh37
NC_000003.10:g.38768906T>A	NCBI36
NG_031891.2:g.46600A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1563A>T MANE Select	ENSP00000390600.2:p.Thr521=
ENST00000643924.1:c.1563A>T	ENSP00000495595.1:p.Thr521=
ENST00000655275.1:c.1590A>T	ENSP00000499510.1:p.Thr530=
ENST00000449082.2:c.1563A>T	ENSP00000390600.2:p.Thr521=
NM_001293306.2:c.1563A>T	NP_001280235.2:p.Thr521=
NM_001293307.2:c.1462-2227A>T	NP_001280236.2:n.1462-2227A>T
NM_006514.3:c.1563A>T	NP_006505.3:p.Thr521=
XM_005265371.2:c.1572A>T	XP_005265428.1:p.Thr524=
XM_011533993.1:c.1572A>T	XP_011532295.1:p.Thr524=
XM_011533994.1:c.1471-2227A>T	XP_011532296.1:n.1471-2227A>T
XM_005265371.3:c.1572A>T	XP_005265428.1:p.Thr524=
XM_011533993.2:c.1572A>T	XP_011532295.1:p.Thr524=
XM_011533994.2:c.1471-2227A>T	XP_011532296.1:n.1471-2227A>T
NM_006514.4:c.1563A>T MANE Select	NP_006505.4:p.Thr521=