Canonical Allele Identifier: CA72991202

Gene: SCN10A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38756771A>G , CM000665.2:g.38756771A>G	GRCh38
NC_000003.11:g.38798262A>G , CM000665.1:g.38798262A>G	GRCh37
NC_000003.10:g.38773266A>G	NCBI36
NG_031891.2:g.42240T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006514.4:c.1193T>C MANE Select	NP_006505.4:p.Met398Thr
ENST00000449082.3:c.1193T>C MANE Select	ENSP00000390600.2:p.Met398Thr
NM_001293306.2:c.1193T>C	NP_001280235.2:p.Met398Thr
NM_001293307.2:c.1193T>C	NP_001280236.2:p.Met398Thr
NM_006514.3:c.1193T>C	NP_006505.3:p.Met398Thr
ENST00000449082.2:c.1193T>C	ENSP00000390600.2:p.Met398Thr
ENST00000643924.1:c.1193T>C	ENSP00000495595.1:p.Met398Thr
ENST00000655275.1:c.1220T>C	ENSP00000499510.1:p.Met407Thr
XM_005265371.2:c.1202T>C	XP_005265428.1:p.Met401Thr
XM_005265371.3:c.1202T>C	XP_005265428.1:p.Met401Thr
XM_011533993.1:c.1202T>C	XP_011532295.1:p.Met401Thr
XM_011533993.2:c.1202T>C	XP_011532295.1:p.Met401Thr
XM_011533994.1:c.1202T>C	XP_011532296.1:p.Met401Thr
XM_011533994.2:c.1202T>C	XP_011532296.1:p.Met401Thr