Canonical Allele Identifier: CA1139655961

Gene: NMNAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9943515G>T , CM000663.2:g.9943515G>T	GRCh38
NC_000001.10:g.10003573G>T , CM000663.1:g.10003573G>T	GRCh37
NC_000001.9:g.9926160G>T	NCBI36
NG_032954.1:g.5088G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022787.4:c.-57G>T MANE Select	NP_073624.2:n.-57G>T
ENST00000377205.6:c.-57G>T MANE Select	ENSP00000366410.1:n.-57G>T
NM_001297778.1:c.-57+490G>T	NP_001284707.1:n.-57+490G>T
NM_001297779.1:c.-57G>T	NP_001284708.1:n.-57G>T
NM_001297779.2:c.-57G>T	NP_001284708.1:n.-57G>T
NM_022787.3:c.-57G>T	NP_073624.2:n.-57G>T
ENST00000377205.5:c.-57G>T	ENSP00000366410.1:n.-57G>T
ENST00000403197.5:c.-57G>T	ENSP00000385131.1:n.-57G>T
ENST00000462686.1:c.-57G>T	ENSP00000435134.1:n.-57G>T
ENST00000492735.1:n.28G>T
XM_011541971.1:c.-57G>T	XP_011540273.1:n.-57G>T
XM_011541971.2:c.-57G>T	XP_011540273.1:n.-57G>T
XM_017002108.2:c.-57G>T	XP_016857597.1:n.-57G>T