Canonical Allele Identifier: CA235735
Gene: NMNAT1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.9972126A>G
GRCh37 chr1:g.10032184A>G
Revel Score:
ENST00000403197 0.928
ENST00000377205 (MANE Select) 0.928
gnomAD v2:
1:10032184 A / G
gnomAD v3:
1:9972126 A / G
gnomAD v4:
chr1-9972126-A-G
Joint Max Group AF 0.00003342 (NFE)
Exomes Max Group AF 0.00003461 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9972126A>G , CM000663.2:g.9972126A>G GRCh38
NC_000001.10:g.10032184A>G , CM000663.1:g.10032184A>G GRCh37
NC_000001.9:g.9954771A>G NCBI36
NG_032954.1:g.33699A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377205.6:c.53A>G MANE Select ENSP00000366410.1:p.Asn18Ser
ENST00000377205.5:c.53A>G ENSP00000366410.1:p.Asn18Ser
ENST00000403197.5:c.53A>G ENSP00000385131.1:p.Asn18Ser
ENST00000462686.1:c.53A>G ENSP00000435134.1:p.Asn18Ser
ENST00000492735.1:n.137A>G
NM_001297778.1:c.53A>G NP_001284707.1:p.Asn18Ser
NM_001297779.1:c.53A>G NP_001284708.1:p.Asn18Ser
NM_022787.3:c.53A>G NP_073624.2:p.Asn18Ser
XM_011541971.1:c.53A>G XP_011540273.1:p.Asn18Ser
XM_011541971.2:c.53A>G XP_011540273.1:p.Asn18Ser
XM_017002107.2:c.53A>G XP_016857596.1:p.Asn18Ser
XM_017002108.2:c.53A>G XP_016857597.1:p.Asn18Ser
NM_022787.4:c.53A>G MANE Select NP_073624.2:p.Asn18Ser
NM_001297779.2:c.53A>G NP_001284708.1:p.Asn18Ser
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