Canonical Allele Identifier: CA342906

Gene: NMNAT1

Linked Data

• ClinVar Variation Id: 37134
• ClinVar RCV Id: RCV000030765 ; RCV000255806 ; RCV001003567 ; RCV000504859 ; RCV001075816
• dbSNP Id: rs150726175
• ExAC: 1:10042688 G / A
• gnomAD v2: 1-10042688-G-A
• gnomAD v3: 1-9982630-G-A
• gnomAD v4: 1-9982630-G-A
• MyVariant Identifiers: chr1:g.10042688G>A (hg19) ; chr1:g.9982630G>A (hg38)
• PubMed: PMID:20301475 ; PMID:22842227 ; PMID:22842229 ; PMID:22842230 ; PMID:22842231 ; PMID:26018082 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9982630G>A , CM000663.2:g.9982630G>A	GRCh38
NC_000001.10:g.10042688G>A , CM000663.1:g.10042688G>A	GRCh37
NC_000001.9:g.9965275G>A	NCBI36
NG_032954.1:g.44203G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377205.6:c.769G>A MANE Select	ENSP00000366410.1:p.Glu257Lys
ENST00000377205.5:c.769G>A	ENSP00000366410.1:p.Glu257Lys
ENST00000462686.1:c.769G>A	ENSP00000435134.1:p.Glu257Lys
ENST00000496751.1:c.119+1460G>A
NM_001297778.1:c.769G>A	NP_001284707.1:p.Glu257Lys
NM_022787.3:c.769G>A	NP_073624.2:p.Glu257Lys
XM_011541971.1:c.439+1460G>A	XP_011540273.1:n.439+1460G>A
XM_011541971.2:c.439+1460G>A	XP_011540273.1:n.439+1460G>A
XM_017002107.2:c.769G>A	XP_016857596.1:p.Glu257Lys
XM_017002108.2:c.439+1460G>A	XP_016857597.1:n.439+1460G>A
NM_022787.4:c.769G>A MANE Select	NP_073624.2:p.Glu257Lys