Canonical Allele Identifier: CA338684127

Gene: NMNAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9975590A>G , CM000663.2:g.9975590A>G	GRCh38
NC_000001.10:g.10035648A>G , CM000663.1:g.10035648A>G	GRCh37
NC_000001.9:g.9958235A>G	NCBI36
NG_032954.1:g.37163A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022787.4:c.116-2A>G MANE Select	NP_073624.2:n.116-2A>G
ENST00000377205.6:c.116-2A>G MANE Select	ENSP00000366410.1:n.116-2A>G
NM_001297778.1:c.116-2A>G	NP_001284707.1:n.116-2A>G
NM_001297779.1:c.116-2A>G	NP_001284708.1:n.116-2A>G
NM_001297779.2:c.116-2A>G	NP_001284708.1:n.116-2A>G
NM_022787.3:c.116-2A>G	NP_073624.2:n.116-2A>G
ENST00000377205.5:c.116-2A>G	ENSP00000366410.1:n.116-2A>G
ENST00000403197.5:c.116-2A>G	ENSP00000385131.1:n.116-2A>G
ENST00000462686.1:c.116-2A>G	ENSP00000435134.1:n.116-2A>G
XM_011541971.1:c.116-2A>G	XP_011540273.1:n.116-2A>G
XM_011541971.2:c.116-2A>G	XP_011540273.1:n.116-2A>G
XM_017002107.2:c.116-2A>G	XP_016857596.1:n.116-2A>G
XM_017002108.2:c.116-2A>G	XP_016857597.1:n.116-2A>G