Canonical Allele Identifier: CA338686519
Gene: NMNAT1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.9982346C>A
GRCh37 chr1:g.10042404C>A
Revel Score:
ENST00000377205 (MANE Select) 0.926
gnomAD v3:
1:9982346 C / A
gnomAD v4:
chr1-9982346-C-A
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.0000031 (NFE)
ClinVar RCV:
RCV000504848
ClinVar Variation:
438133
dbSNP:
1553128102
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9982346C>A , CM000663.2:g.9982346C>A GRCh38
NC_000001.10:g.10042404C>A , CM000663.1:g.10042404C>A GRCh37
NC_000001.9:g.9964991C>A NCBI36
NG_032954.1:g.43919C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377205.6:c.485C>A MANE Select ENSP00000366410.1:p.Ser162Tyr
ENST00000377205.5:c.485C>A ENSP00000366410.1:p.Ser162Tyr
ENST00000462686.1:c.485C>A ENSP00000435134.1:p.Ser162Tyr
ENST00000496751.1:c.119+1176C>A
NM_001297778.1:c.485C>A NP_001284707.1:p.Ser162Tyr
NM_022787.3:c.485C>A NP_073624.2:p.Ser162Tyr
XM_011541971.1:c.439+1176C>A XP_011540273.1:n.439+1176C>A
XM_011541971.2:c.439+1176C>A XP_011540273.1:n.439+1176C>A
XM_017002107.2:c.485C>A XP_016857596.1:p.Ser162Tyr
XM_017002108.2:c.439+1176C>A XP_016857597.1:n.439+1176C>A
NM_022787.4:c.485C>A MANE Select NP_073624.2:p.Ser162Tyr
Search 100 bp 5'
Search 100 bp 3'