Canonical Allele Identifier: CA579318
Gene: NMNAT1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.9982577T>C
GRCh37 chr1:g.10042635T>C
Revel Score:
ENST00000377205 (MANE Select) 0.977
gnomAD v2:
1:10042635 T / C
gnomAD v3:
1:9982577 T / C
gnomAD v4:
chr1-9982577-T-C
Joint Max Group AF 0.00000247 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar Allele:
448406
ClinVar RCV:
RCV000538650
ClinVar Variation:
464670
dbSNP:
778606847
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9982577T>C , CM000663.2:g.9982577T>C GRCh38
NC_000001.10:g.10042635T>C , CM000663.1:g.10042635T>C GRCh37
NC_000001.9:g.9965222T>C NCBI36
NG_032954.1:g.44150T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377205.6:c.716T>C MANE Select ENSP00000366410.1:p.Leu239Ser
ENST00000377205.5:c.716T>C ENSP00000366410.1:p.Leu239Ser
ENST00000462686.1:c.716T>C ENSP00000435134.1:p.Leu239Ser
ENST00000496751.1:c.119+1407T>C
NM_001297778.1:c.716T>C NP_001284707.1:p.Leu239Ser
NM_022787.3:c.716T>C NP_073624.2:p.Leu239Ser
XM_011541971.1:c.439+1407T>C XP_011540273.1:n.439+1407T>C
XM_011541971.2:c.439+1407T>C XP_011540273.1:n.439+1407T>C
XM_017002107.2:c.716T>C XP_016857596.1:p.Leu239Ser
XM_017002108.2:c.439+1407T>C XP_016857597.1:n.439+1407T>C
NM_022787.4:c.716T>C MANE Select NP_073624.2:p.Leu239Ser
Search 100 bp 5'
Search 100 bp 3'