Canonical Allele Identifier: CA9212086

Gene: ODAD3

Linked Data

• ClinVar Variation Id: 414141
• ClinVar RCV Id: RCV000465741
• dbSNP Id: rs199934107
• ExAC: 19:11533443 C / T
• gnomAD v2: 19-11533443-C-T
• gnomAD v3: 19-11422775-C-T
• gnomAD v4: 19-11422775-C-T
• MyVariant Identifiers: chr19:g.11533443C>T (hg19) ; chr19:g.11422775C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422775C>T , CM000681.2:g.11422775C>T	GRCh38
NC_000019.9:g.11533443C>T , CM000681.1:g.11533443C>T	GRCh37
NC_000019.8:g.11394443C>T	NCBI36
NG_041777.1:g.18008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1203G>A MANE Select	ENSP00000348757.3:p.Arg401=
ENST00000356392.8:c.1203G>A	ENSP00000348757.3:p.Arg401=
ENST00000586836.5:c.630G>A	ENSP00000467429.1:p.Arg210=
ENST00000591179.5:c.1023G>A	ENSP00000466800.1:p.Arg341=
ENST00000591345.5:c.*1122G>A	ENSP00000467313.1:n.*1122G>A
NM_001302453.1:c.1041G>A	NP_001289382.1:p.Arg347=
NM_001302454.1:c.1023G>A	NP_001289383.1:p.Arg341=
NM_145045.4:c.1203G>A	NP_659482.3:p.Arg401=
NM_145045.5:c.1203G>A MANE Select	NP_659482.3:p.Arg401=
NM_001302454.2:c.1023G>A	NP_001289383.1:p.Arg341=