Canonical Allele Identifier: CA338686596

Gene: NMNAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9982379A>G , CM000663.2:g.9982379A>G	GRCh38
NC_000001.10:g.10042437A>G , CM000663.1:g.10042437A>G	GRCh37
NC_000001.9:g.9965024A>G	NCBI36
NG_032954.1:g.43952A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022787.4:c.518A>G MANE Select	NP_073624.2:p.Asp173Gly
ENST00000377205.6:c.518A>G MANE Select	ENSP00000366410.1:p.Asp173Gly
NM_001297778.1:c.518A>G	NP_001284707.1:p.Asp173Gly
NM_022787.3:c.518A>G	NP_073624.2:p.Asp173Gly
ENST00000377205.5:c.518A>G	ENSP00000366410.1:p.Asp173Gly
ENST00000462686.1:c.518A>G	ENSP00000435134.1:p.Asp173Gly
ENST00000496751.1:c.119+1209A>G
XM_011541971.1:c.439+1209A>G	XP_011540273.1:n.439+1209A>G
XM_011541971.2:c.439+1209A>G	XP_011540273.1:n.439+1209A>G
XM_017002107.2:c.518A>G	XP_016857596.1:p.Asp173Gly
XM_017002108.2:c.439+1209A>G	XP_016857597.1:n.439+1209A>G