Canonical Allele Identifier: CA260592
Gene: NMNAT1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.9982678A>G
GRCh37 chr1:g.10042736A>G
Revel Score:
ENST00000377205 (MANE Select) 0.396
gnomAD v2:
1:10042736 A / G
gnomAD v3:
1:9982678 A / G
gnomAD v4:
chr1-9982678-A-G
Joint Max Group AF 2.8e-7 (NFE)
ClinVar RCV:
RCV000030766
ClinVar Variation:
37135
dbSNP:
387907291
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9982678A>G , CM000663.2:g.9982678A>G GRCh38
NC_000001.10:g.10042736A>G , CM000663.1:g.10042736A>G GRCh37
NC_000001.9:g.9965323A>G NCBI36
NG_032954.1:g.44251A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377205.6:c.817A>G MANE Select ENSP00000366410.1:p.Asn273Asp
ENST00000377205.5:c.817A>G ENSP00000366410.1:p.Asn273Asp
ENST00000462686.1:c.817A>G ENSP00000435134.1:p.Asn273Asp
ENST00000496751.1:c.119+1508A>G
NM_001297778.1:c.817A>G NP_001284707.1:p.Asn273Asp
NM_022787.3:c.817A>G NP_073624.2:p.Asn273Asp
XM_011541971.1:c.439+1508A>G XP_011540273.1:n.439+1508A>G
XM_011541971.2:c.439+1508A>G XP_011540273.1:n.439+1508A>G
XM_017002107.2:c.817A>G XP_016857596.1:p.Asn273Asp
XM_017002108.2:c.439+1508A>G XP_016857597.1:n.439+1508A>G
NM_022787.4:c.817A>G MANE Select NP_073624.2:p.Asn273Asp
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