Canonical Allele Identifier: CA579176
Gene: NMNAT1 HGNC NCBI
ClinVar RCV:
RCV001344745
ClinVar Variation:
1041004
dbSNP:
765892459
gnomAD v2:
1:10035718 C / A
gnomAD v3:
1:9975660 C / A
gnomAD v4:
chr1-9975660-C-A
Joint Max Group AF 0.00007231 (AFR)
Genomes Max Group AF 0.00006287 (AFR)
Exomes Max Group AF 0.00003983 (AFR)
MyVariant.info:
GRCh38 chr1:g.9975660C>A
GRCh37 chr1:g.10035718C>A
Revel Score:
ENST00000403197 0.362
ENST00000377205 (MANE Select) 0.362
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9975660C>A , CM000663.2:g.9975660C>A GRCh38
NC_000001.10:g.10035718C>A , CM000663.1:g.10035718C>A GRCh37
NC_000001.9:g.9958305C>A NCBI36
NG_032954.1:g.37233C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377205.6:c.184C>A MANE Select ENSP00000366410.1:p.Pro62Thr
ENST00000377205.5:c.184C>A ENSP00000366410.1:p.Pro62Thr
ENST00000403197.5:c.184C>A ENSP00000385131.1:p.Pro62Thr
ENST00000462686.1:c.184C>A ENSP00000435134.1:p.Pro62Thr
NM_001297778.1:c.184C>A NP_001284707.1:p.Pro62Thr
NM_001297779.1:c.184C>A NP_001284708.1:p.Pro62Thr
NM_022787.3:c.184C>A NP_073624.2:p.Pro62Thr
XM_011541971.1:c.184C>A XP_011540273.1:p.Pro62Thr
XM_011541971.2:c.184C>A XP_011540273.1:p.Pro62Thr
XM_017002107.2:c.184C>A XP_016857596.1:p.Pro62Thr
XM_017002108.2:c.184C>A XP_016857597.1:p.Pro62Thr
NM_022787.4:c.184C>A MANE Select NP_073624.2:p.Pro62Thr
NM_001297779.2:c.184C>A NP_001284708.1:p.Pro62Thr
Search 100 bp 5'
Search 100 bp 3'