Canonical Allele Identifier: CA260588
Gene: NMNAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37132
ClinVar RCV Id: RCV000030763
dbSNP Id: rs387907290
gnomAD v4: 1-9982699-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9982699T>C , CM000663.2:g.9982699T>C GRCh38
NC_000001.10:g.10042757T>C , CM000663.1:g.10042757T>C GRCh37
NC_000001.9:g.9965344T>C NCBI36
NG_032954.1:g.44272T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377205.6:c.838T>C MANE Select ENSP00000366410.1:p.Ter280Gln
ENST00000377205.5:c.838T>C ENSP00000366410.1:p.Ter280Gln
ENST00000462686.1:c.838T>C ENSP00000435134.1:p.Ter280Gln
ENST00000496751.1:c.119+1529T>C
NM_001297778.1:c.838T>C NP_001284707.1:p.Ter280Gln
NM_022787.3:c.838T>C NP_073624.2:p.Ter280Gln
XM_011541971.1:c.439+1529T>C XP_011540273.1:n.439+1529T>C
XM_011541971.2:c.439+1529T>C XP_011540273.1:n.439+1529T>C
XM_017002107.2:c.838T>C XP_016857596.1:p.Ter280Gln
XM_017002108.2:c.439+1529T>C XP_016857597.1:n.439+1529T>C
NM_022787.4:c.838T>C MANE Select NP_073624.2:p.Ter280Gln