Canonical Allele Identifier: CA16615994

Gene: ODAD3

Linked Data

• ClinVar Variation Id: 406818
• ClinVar RCV Id: RCV000466248 ; RCV003278811
• dbSNP Id: rs1060501320
• MyVariant Identifiers: chr19:g.11533257T>C (hg19) ; chr19:g.11422589T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422589T>C , CM000681.2:g.11422589T>C	GRCh38
NC_000019.9:g.11533257T>C , CM000681.1:g.11533257T>C	GRCh37
NC_000019.8:g.11394257T>C	NCBI36
NG_041777.1:g.18194A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1316A>G MANE Select	ENSP00000348757.3:p.Lys439Arg
ENST00000356392.8:c.1316A>G	ENSP00000348757.3:p.Lys439Arg
ENST00000586836.5:c.743A>G	ENSP00000467429.1:p.Lys248Arg
ENST00000591179.5:c.1136A>G	ENSP00000466800.1:p.Lys379Arg
ENST00000591345.5:c.*1235A>G	ENSP00000467313.1:n.*1235A>G
NM_001302453.1:c.1154A>G	NP_001289382.1:p.Lys385Arg
NM_001302454.1:c.1136A>G	NP_001289383.1:p.Lys379Arg
NM_145045.4:c.1316A>G	NP_659482.3:p.Lys439Arg
NM_145045.5:c.1316A>G MANE Select	NP_659482.3:p.Lys439Arg
NM_001302454.2:c.1136A>G	NP_001289383.1:p.Lys379Arg