Canonical Allele Identifier: CA1943596
Community Standard Title: NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166198694T>A , CM000664.2:g.166198694T>A GRCh38
NC_000002.11:g.167055204T>A , CM000664.1:g.167055204T>A GRCh37
NC_000002.10:g.166763450T>A NCBI36
NG_012798.1:g.182294A>T , LRG_369:g.182294A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001365536.1:c.5945A>T (SCN9A) MANE Select NP_001352465.1:p.Asp1982Val
ENST00000642356.2:c.5945A>T (SCN9A) MANE Select ENSP00000495601.1:p.Asp1982Val
NM_002977.3:c.5912A>T , LRG_369t1:c.5912A>T (SCN9A) NP_002968.1:p.Asp1971Val
NR_110260.1:n.432-945T>A (SCN1A-AS1)
ENST00000303354.10:c.5945A>T (SCN9A) ENSP00000304748.7:p.Asp1982Val
ENST00000303354.11:c.5945A>T (SCN9A) ENSP00000304748.7:p.Asp1982Val
ENST00000409435.5:c.5945A>T (SCN9A) ENSP00000386330.1:p.Asp1982Val
ENST00000409435.6:c.5945A>T (SCN9A) ENSP00000386330.2:p.Asp1982Val
ENST00000409672.5:c.5912A>T (SCN9A) ENSP00000386306.1:p.Asp1971Val
ENST00000644316.1:c.5789A>T (SCN9A) ENSP00000493939.1:p.Asp1930Val
ENST00000645907.1:c.5912A>T (SCN9A) ENSP00000495983.1:p.Asp1971Val
ENST00000646694.1:n.2322A>T (SCN9A)
XM_005246757.1:c.5945A>T (SCN9A) XP_005246814.1:p.Asp1982Val
XM_011511616.1:c.5945A>T (SCN9A) XP_011509918.1:p.Asp1982Val
XM_011511616.3:c.5945A>T (SCN9A) XP_011509918.1:p.Asp1982Val
XM_011511617.1:c.5945A>T (SCN9A) XP_011509919.1:p.Asp1982Val
XM_011511617.2:c.5945A>T (SCN9A) XP_011509919.1:p.Asp1982Val
XM_011511618.1:c.5912A>T (SCN9A) XP_011509920.1:p.Asp1971Val
XM_011511618.2:c.5912A>T (SCN9A) XP_011509920.1:p.Asp1971Val
XM_017004668.1:c.5558A>T (SCN9A) XP_016860157.1:p.Asp1853Val
XM_017004669.1:c.5201A>T (SCN9A) XP_016860158.1:p.Asp1734Val