Canonical Allele Identifier: CA18197799

Gene: NMNAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9943519A>G , CM000663.2:g.9943519A>G	GRCh38
NC_000001.10:g.10003577A>G , CM000663.1:g.10003577A>G	GRCh37
NC_000001.9:g.9926164A>G	NCBI36
NG_032954.1:g.5092A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022787.4:c.-57+4A>G MANE Select	NP_073624.2:n.-57+4A>G
ENST00000377205.6:c.-57+4A>G MANE Select	ENSP00000366410.1:n.-57+4A>G
NM_001297778.1:c.-57+494A>G	NP_001284707.1:n.-57+494A>G
NM_001297779.1:c.-57+4A>G	NP_001284708.1:n.-57+4A>G
NM_001297779.2:c.-57+4A>G	NP_001284708.1:n.-57+4A>G
NM_022787.3:c.-57+4A>G	NP_073624.2:n.-57+4A>G
ENST00000377205.5:c.-57+4A>G	ENSP00000366410.1:n.-57+4A>G
ENST00000403197.5:c.-57+4A>G	ENSP00000385131.1:n.-57+4A>G
ENST00000462686.1:c.-57+4A>G	ENSP00000435134.1:n.-57+4A>G
ENST00000492735.1:n.28+4A>G
XM_011541971.1:c.-57+4A>G	XP_011540273.1:n.-57+4A>G
XM_011541971.2:c.-57+4A>G	XP_011540273.1:n.-57+4A>G
XM_017002108.2:c.-57+4A>G	XP_016857597.1:n.-57+4A>G