Canonical Allele Identifier: CA9212102

Gene: ODAD3

Linked Data

• ClinVar Variation Id: 2165559
• ClinVar RCV Id: RCV003090045
• dbSNP Id: rs765092775
• ExAC: 19:11533516 C / T
• gnomAD v2: 19-11533516-C-T
• gnomAD v3: 19-11422848-C-T
• gnomAD v4: 19-11422848-C-T
• MyVariant Identifiers: chr19:g.11533516C>T (hg19) ; chr19:g.11422848C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422848C>T , CM000681.2:g.11422848C>T	GRCh38
NC_000019.9:g.11533516C>T , CM000681.1:g.11533516C>T	GRCh37
NC_000019.8:g.11394516C>T	NCBI36
NG_041777.1:g.17935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1130G>A MANE Select	ENSP00000348757.3:p.Arg377Gln
ENST00000356392.8:c.1130G>A	ENSP00000348757.3:p.Arg377Gln
ENST00000586836.5:c.557G>A	ENSP00000467429.1:p.Arg186Gln
ENST00000591179.5:c.950G>A	ENSP00000466800.1:p.Arg317Gln
ENST00000591345.5:c.*1049G>A	ENSP00000467313.1:n.*1049G>A
NM_001302453.1:c.968G>A	NP_001289382.1:p.Arg323Gln
NM_001302454.1:c.950G>A	NP_001289383.1:p.Arg317Gln
NM_145045.4:c.1130G>A	NP_659482.3:p.Arg377Gln
XM_017026241.1:c.*24G>A	XP_016881730.1:n.*24G>A
NM_145045.5:c.1130G>A MANE Select	NP_659482.3:p.Arg377Gln
NM_001302454.2:c.950G>A	NP_001289383.1:p.Arg317Gln