Canonical Allele Identifier: CA1139655962
Community Standard Title: NM_022787.4(NMNAT1):c.-57+10C>T
Gene: NMNAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9943525C>T , CM000663.2:g.9943525C>T GRCh38
NC_000001.10:g.10003583C>T , CM000663.1:g.10003583C>T GRCh37
NC_000001.9:g.9926170C>T NCBI36
NG_032954.1:g.5098C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022787.4:c.-57+10C>T MANE Select NP_073624.2:n.-57+10C>T
ENST00000377205.6:c.-57+10C>T MANE Select ENSP00000366410.1:n.-57+10C>T
NM_001297778.1:c.-57+500C>T NP_001284707.1:n.-57+500C>T
NM_001297779.1:c.-57+10C>T NP_001284708.1:n.-57+10C>T
NM_001297779.2:c.-57+10C>T NP_001284708.1:n.-57+10C>T
NM_022787.3:c.-57+10C>T NP_073624.2:n.-57+10C>T
ENST00000377205.5:c.-57+10C>T ENSP00000366410.1:n.-57+10C>T
ENST00000403197.5:c.-57+10C>T ENSP00000385131.1:n.-57+10C>T
ENST00000462686.1:c.-57+10C>T ENSP00000435134.1:n.-57+10C>T
ENST00000492735.1:n.28+10C>T
XM_011541971.1:c.-57+10C>T XP_011540273.1:n.-57+10C>T
XM_011541971.2:c.-57+10C>T XP_011540273.1:n.-57+10C>T
XM_017002108.2:c.-57+10C>T XP_016857597.1:n.-57+10C>T