Canonical Allele Identifier: CA18240259

Gene: NMNAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9982509G>A , CM000663.2:g.9982509G>A	GRCh38
NC_000001.10:g.10042567G>A , CM000663.1:g.10042567G>A	GRCh37
NC_000001.9:g.9965154G>A	NCBI36
NG_032954.1:g.44082G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022787.4:c.648G>A MANE Select	NP_073624.2:p.Trp216Ter
ENST00000377205.6:c.648G>A MANE Select	ENSP00000366410.1:p.Trp216Ter
NM_001297778.1:c.648G>A	NP_001284707.1:p.Trp216Ter
NM_022787.3:c.648G>A	NP_073624.2:p.Trp216Ter
ENST00000377205.5:c.648G>A	ENSP00000366410.1:p.Trp216Ter
ENST00000462686.1:c.648G>A	ENSP00000435134.1:p.Trp216Ter
ENST00000496751.1:c.119+1339G>A
XM_011541971.1:c.439+1339G>A	XP_011540273.1:n.439+1339G>A
XM_011541971.2:c.439+1339G>A	XP_011540273.1:n.439+1339G>A
XM_017002107.2:c.648G>A	XP_016857596.1:p.Trp216Ter
XM_017002108.2:c.439+1339G>A	XP_016857597.1:n.439+1339G>A