Canonical Allele Identifier: CA404120307

Gene: ODAD3

Linked Data

• ClinVar Variation Id: 3203990
• ClinVar RCV Id: RCV004496807
• dbSNP Id: rs1969170836
• gnomAD v4: 19-11422782-A-C
• MyVariant Identifiers: chr19:g.11533450A>C (hg19) ; chr19:g.11422782A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422782A>C , CM000681.2:g.11422782A>C	GRCh38
NC_000019.9:g.11533450A>C , CM000681.1:g.11533450A>C	GRCh37
NC_000019.8:g.11394450A>C	NCBI36
NG_041777.1:g.18001T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1196T>G MANE Select	ENSP00000348757.3:p.Leu399Trp
ENST00000356392.8:c.1196T>G	ENSP00000348757.3:p.Leu399Trp
ENST00000586836.5:c.623T>G	ENSP00000467429.1:p.Leu208Trp
ENST00000591179.5:c.1016T>G	ENSP00000466800.1:p.Leu339Trp
ENST00000591345.5:c.*1115T>G	ENSP00000467313.1:n.*1115T>G
NM_001302453.1:c.1034T>G	NP_001289382.1:p.Leu345Trp
NM_001302454.1:c.1016T>G	NP_001289383.1:p.Leu339Trp
NM_145045.4:c.1196T>G	NP_659482.3:p.Leu399Trp
XM_017026241.1:c.*90T>G	XP_016881730.1:n.*90T>G
NM_145045.5:c.1196T>G MANE Select	NP_659482.3:p.Leu399Trp
NM_001302454.2:c.1016T>G	NP_001289383.1:p.Leu339Trp