Canonical Allele Identifier: CA9212058
Gene: ODAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 414139
ClinVar RCV Id: RCV000470925
dbSNP Id: rs758094826
ExAC: 19:11533244 C / T
gnomAD v2: 19-11533244-C-T
gnomAD v3: 19-11422576-C-T
gnomAD v4: 19-11422576-C-T
MyVariant Identifiers: chr19:g.11533244C>T (hg19) chr19:g.11422576C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11422576C>T , CM000681.2:g.11422576C>T GRCh38
NC_000019.9:g.11533244C>T , CM000681.1:g.11533244C>T GRCh37
NC_000019.8:g.11394244C>T NCBI36
NG_041777.1:g.18207G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356392.9:c.1329G>A MANE Select ENSP00000348757.3:p.Arg443=
ENST00000356392.8:c.1329G>A ENSP00000348757.3:p.Arg443=
ENST00000586836.5:c.756G>A ENSP00000467429.1:p.Arg252=
ENST00000591179.5:c.1149G>A ENSP00000466800.1:p.Arg383=
ENST00000591345.5:c.*1248G>A ENSP00000467313.1:n.*1248G>A
NM_001302453.1:c.1167G>A NP_001289382.1:p.Arg389=
NM_001302454.1:c.1149G>A NP_001289383.1:p.Arg383=
NM_145045.4:c.1329G>A NP_659482.3:p.Arg443=
NM_145045.5:c.1329G>A MANE Select NP_659482.3:p.Arg443=
NM_001302454.2:c.1149G>A NP_001289383.1:p.Arg383=
Search 100 bp 5'
Search 100 bp 3'