Canonical Allele Identifier: CA579132

Gene: NMNAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9972189G>C , CM000663.2:g.9972189G>C	GRCh38
NC_000001.10:g.10032247G>C , CM000663.1:g.10032247G>C	GRCh37
NC_000001.9:g.9954834G>C	NCBI36
NG_032954.1:g.33762G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022787.4:c.115+1G>C MANE Select	NP_073624.2:n.115+1G>C
ENST00000377205.6:c.115+1G>C MANE Select	ENSP00000366410.1:n.115+1G>C
NM_001297778.1:c.115+1G>C	NP_001284707.1:n.115+1G>C
NM_001297779.1:c.115+1G>C	NP_001284708.1:n.115+1G>C
NM_001297779.2:c.115+1G>C	NP_001284708.1:n.115+1G>C
NM_022787.3:c.115+1G>C	NP_073624.2:n.115+1G>C
ENST00000377205.5:c.115+1G>C	ENSP00000366410.1:n.115+1G>C
ENST00000403197.5:c.115+1G>C	ENSP00000385131.1:n.115+1G>C
ENST00000462686.1:c.115+1G>C	ENSP00000435134.1:n.115+1G>C
ENST00000492735.1:n.200G>C
XM_011541971.1:c.115+1G>C	XP_011540273.1:n.115+1G>C
XM_011541971.2:c.115+1G>C	XP_011540273.1:n.115+1G>C
XM_017002107.2:c.115+1G>C	XP_016857596.1:n.115+1G>C
XM_017002108.2:c.115+1G>C	XP_016857597.1:n.115+1G>C