Canonical Allele Identifier: CA338687213

Gene: NMNAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9982582C>T , CM000663.2:g.9982582C>T	GRCh38
NC_000001.10:g.10042640C>T , CM000663.1:g.10042640C>T	GRCh37
NC_000001.9:g.9965227C>T	NCBI36
NG_032954.1:g.44155C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022787.4:c.721C>T MANE Select	NP_073624.2:p.Pro241Ser
ENST00000377205.6:c.721C>T MANE Select	ENSP00000366410.1:p.Pro241Ser
NM_001297778.1:c.721C>T	NP_001284707.1:p.Pro241Ser
NM_022787.3:c.721C>T	NP_073624.2:p.Pro241Ser
ENST00000377205.5:c.721C>T	ENSP00000366410.1:p.Pro241Ser
ENST00000462686.1:c.721C>T	ENSP00000435134.1:p.Pro241Ser
ENST00000496751.1:c.119+1412C>T
XM_011541971.1:c.439+1412C>T	XP_011540273.1:n.439+1412C>T
XM_011541971.2:c.439+1412C>T	XP_011540273.1:n.439+1412C>T
XM_017002107.2:c.721C>T	XP_016857596.1:p.Pro241Ser
XM_017002108.2:c.439+1412C>T	XP_016857597.1:n.439+1412C>T