Canonical Allele Identifier: CA9212216

Gene: ODAD3

Linked Data

• ClinVar Variation Id: 228474
• ClinVar RCV Id: RCV000221623 ; RCV000228329
• dbSNP Id: rs762033637
• ExAC: 19:11537013 T / C
• gnomAD v2: 19-11537013-T-C
• gnomAD v3: 19-11426193-T-C
• gnomAD v4: 19-11426193-T-C
• COSMIC: COSM2814485
• MyVariant Identifiers: chr19:g.11537013T>C (hg19) ; chr19:g.11426193T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11426193T>C , CM000681.2:g.11426193T>C	GRCh38
NC_000019.9:g.11537013T>C , CM000681.1:g.11537013T>C	GRCh37
NC_000019.8:g.11398013T>C	NCBI36
NG_041777.1:g.14590A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356392.9:c.914A>G MANE Select	ENSP00000348757.3:p.Lys305Arg
ENST00000356392.8:c.914A>G	ENSP00000348757.3:p.Lys305Arg
ENST00000586836.5:c.341A>G	ENSP00000467429.1:p.Lys114Arg
ENST00000591179.5:c.734A>G	ENSP00000466800.1:p.Lys245Arg
ENST00000591345.5:c.*833A>G	ENSP00000467313.1:n.*833A>G
NM_001302453.1:c.752A>G	NP_001289382.1:p.Lys251Arg
NM_001302454.1:c.734A>G	NP_001289383.1:p.Lys245Arg
NM_145045.4:c.914A>G	NP_659482.3:p.Lys305Arg
XM_017026241.1:c.904+10A>G	XP_016881730.1:n.904+10A>G
NM_145045.5:c.914A>G MANE Select	NP_659482.3:p.Lys305Arg
NM_001302454.2:c.734A>G	NP_001289383.1:p.Lys245Arg