Canonical Allele Identifier: CA579133

Gene: NMNAT1

Linked Data

• ClinVar Variation Id: 522303
• ClinVar RCV Id: RCV000625321 ; RCV001700421 ; RCV003424194 ; RCV003905671
• dbSNP Id: rs181504239
• ExAC: 1:10032249 A / G
• gnomAD v2: 1-10032249-A-G
• gnomAD v3: 1-9972191-A-G
• gnomAD v4: 1-9972191-A-G
• MyVariant Identifiers: chr1:g.10032249A>G (hg19) ; chr1:g.9972191A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9972191A>G , CM000663.2:g.9972191A>G	GRCh38
NC_000001.10:g.10032249A>G , CM000663.1:g.10032249A>G	GRCh37
NC_000001.9:g.9954836A>G	NCBI36
NG_032954.1:g.33764A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377205.6:c.115+3A>G MANE Select	ENSP00000366410.1:n.115+3A>G
ENST00000377205.5:c.115+3A>G	ENSP00000366410.1:n.115+3A>G
ENST00000403197.5:c.115+3A>G	ENSP00000385131.1:n.115+3A>G
ENST00000462686.1:c.115+3A>G	ENSP00000435134.1:n.115+3A>G
ENST00000492735.1:n.202A>G
NM_001297778.1:c.115+3A>G	NP_001284707.1:n.115+3A>G
NM_001297779.1:c.115+3A>G	NP_001284708.1:n.115+3A>G
NM_022787.3:c.115+3A>G	NP_073624.2:n.115+3A>G
XM_011541971.1:c.115+3A>G	XP_011540273.1:n.115+3A>G
XM_011541971.2:c.115+3A>G	XP_011540273.1:n.115+3A>G
XM_017002107.2:c.115+3A>G	XP_016857596.1:n.115+3A>G
XM_017002108.2:c.115+3A>G	XP_016857597.1:n.115+3A>G
NM_022787.4:c.115+3A>G MANE Select	NP_073624.2:n.115+3A>G
NM_001297779.2:c.115+3A>G	NP_001284708.1:n.115+3A>G