Canonical Allele Identifier: CA338686460

Gene: NMNAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9982319T>C , CM000663.2:g.9982319T>C	GRCh38
NC_000001.10:g.10042377T>C , CM000663.1:g.10042377T>C	GRCh37
NC_000001.9:g.9964964T>C	NCBI36
NG_032954.1:g.43892T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022787.4:c.458T>C MANE Select	NP_073624.2:p.Leu153Pro
ENST00000377205.6:c.458T>C MANE Select	ENSP00000366410.1:p.Leu153Pro
NM_001297778.1:c.458T>C	NP_001284707.1:p.Leu153Pro
NM_022787.3:c.458T>C	NP_073624.2:p.Leu153Pro
ENST00000377205.5:c.458T>C	ENSP00000366410.1:p.Leu153Pro
ENST00000462686.1:c.458T>C	ENSP00000435134.1:p.Leu153Pro
ENST00000496751.1:c.119+1149T>C
XM_011541971.1:c.439+1149T>C	XP_011540273.1:n.439+1149T>C
XM_011541971.2:c.439+1149T>C	XP_011540273.1:n.439+1149T>C
XM_017002107.2:c.458T>C	XP_016857596.1:p.Leu153Pro
XM_017002108.2:c.439+1149T>C	XP_016857597.1:n.439+1149T>C