Canonical Allele Identifier: CA170853

Gene: ODAD3

Linked Data

• ClinVar Variation Id: 156366
• ClinVar RCV Id: RCV000144450 ; RCV000190933
• dbSNP Id: rs587777780
• gnomAD v4: 19-11422722-G-T
• MyVariant Identifiers: chr19:g.11533390G>T (hg19) ; chr19:g.11422722G>T (hg38)
• PubMed: PMID:20301301 ; PMID:25192045

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422722G>T , CM000681.2:g.11422722G>T	GRCh38
NC_000019.9:g.11533390G>T , CM000681.1:g.11533390G>T	GRCh37
NC_000019.8:g.11394390G>T	NCBI36
NG_041777.1:g.18061C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1256C>A MANE Select	ENSP00000348757.3:p.Ser419Ter
ENST00000356392.8:c.1256C>A	ENSP00000348757.3:p.Ser419Ter
ENST00000586836.5:c.683C>A	ENSP00000467429.1:p.Ser228Ter
ENST00000591179.5:c.1076C>A	ENSP00000466800.1:p.Ser359Ter
ENST00000591345.5:c.*1175C>A	ENSP00000467313.1:n.*1175C>A
NM_001302453.1:c.1094C>A	NP_001289382.1:p.Ser365Ter
NM_001302454.1:c.1076C>A	NP_001289383.1:p.Ser359Ter
NM_145045.4:c.1256C>A	NP_659482.3:p.Ser419Ter
NM_145045.5:c.1256C>A MANE Select	NP_659482.3:p.Ser419Ter
NM_001302454.2:c.1076C>A	NP_001289383.1:p.Ser359Ter