Canonical Allele Identifier: CA59783440
Community Standard Title: NM_001365536.1(SCN9A):c.5497G>A (p.Gly1833Ser)
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166199142C>T , CM000664.2:g.166199142C>T GRCh38
NC_000002.11:g.167055652C>T , CM000664.1:g.167055652C>T GRCh37
NC_000002.10:g.166763898C>T NCBI36
NG_012798.1:g.181846G>A , LRG_369:g.181846G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365536.1:c.5497G>A (SCN9A) MANE Select NP_001352465.1:p.Gly1833Ser
ENST00000642356.2:c.5497G>A (SCN9A) MANE Select ENSP00000495601.1:p.Gly1833Ser
NM_002977.3:c.5464G>A , LRG_369t1:c.5464G>A (SCN9A) NP_002968.1:p.Gly1822Ser
NR_110260.1:n.432-497C>T (SCN1A-AS1)
ENST00000303354.10:c.5497G>A (SCN9A) ENSP00000304748.7:p.Gly1833Ser
ENST00000303354.11:c.5497G>A (SCN9A) ENSP00000304748.7:p.Gly1833Ser
ENST00000409435.5:c.5497G>A (SCN9A) ENSP00000386330.1:p.Gly1833Ser
ENST00000409435.6:c.5497G>A (SCN9A) ENSP00000386330.2:p.Gly1833Ser
ENST00000409672.5:c.5464G>A (SCN9A) ENSP00000386306.1:p.Gly1822Ser
ENST00000644316.1:c.5341G>A (SCN9A) ENSP00000493939.1:p.Gly1781Ser
ENST00000645907.1:c.5464G>A (SCN9A) ENSP00000495983.1:p.Gly1822Ser
ENST00000646694.1:n.1874G>A (SCN9A)
XM_005246757.1:c.5497G>A (SCN9A) XP_005246814.1:p.Gly1833Ser
XM_011511616.1:c.5497G>A (SCN9A) XP_011509918.1:p.Gly1833Ser
XM_011511616.3:c.5497G>A (SCN9A) XP_011509918.1:p.Gly1833Ser
XM_011511617.1:c.5497G>A (SCN9A) XP_011509919.1:p.Gly1833Ser
XM_011511617.2:c.5497G>A (SCN9A) XP_011509919.1:p.Gly1833Ser
XM_011511618.1:c.5464G>A (SCN9A) XP_011509920.1:p.Gly1822Ser
XM_011511618.2:c.5464G>A (SCN9A) XP_011509920.1:p.Gly1822Ser
XM_017004668.1:c.5110G>A (SCN9A) XP_016860157.1:p.Gly1704Ser
XM_017004669.1:c.4753G>A (SCN9A) XP_016860158.1:p.Gly1585Ser