Canonical Allele Identifier: CA338684420

Gene: NMNAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9975655T>G , CM000663.2:g.9975655T>G	GRCh38
NC_000001.10:g.10035713T>G , CM000663.1:g.10035713T>G	GRCh37
NC_000001.9:g.9958300T>G	NCBI36
NG_032954.1:g.37228T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022787.4:c.179T>G MANE Select	NP_073624.2:p.Leu60Arg
ENST00000377205.6:c.179T>G MANE Select	ENSP00000366410.1:p.Leu60Arg
NM_001297778.1:c.179T>G	NP_001284707.1:p.Leu60Arg
NM_001297779.1:c.179T>G	NP_001284708.1:p.Leu60Arg
NM_001297779.2:c.179T>G	NP_001284708.1:p.Leu60Arg
NM_022787.3:c.179T>G	NP_073624.2:p.Leu60Arg
ENST00000377205.5:c.179T>G	ENSP00000366410.1:p.Leu60Arg
ENST00000403197.5:c.179T>G	ENSP00000385131.1:p.Leu60Arg
ENST00000462686.1:c.179T>G	ENSP00000435134.1:p.Leu60Arg
XM_011541971.1:c.179T>G	XP_011540273.1:p.Leu60Arg
XM_011541971.2:c.179T>G	XP_011540273.1:p.Leu60Arg
XM_017002107.2:c.179T>G	XP_016857596.1:p.Leu60Arg
XM_017002108.2:c.179T>G	XP_016857597.1:p.Leu60Arg