Canonical Allele Identifier: CA9211923

Gene: ODAD3

Linked Data

• ClinVar Variation Id: 241943
• ClinVar RCV Id: RCV000231306 ; RCV003939896
• dbSNP Id: rs544310246
• ExAC: 19:11531586 C / A
• gnomAD v2: 19-11531586-C-A
• gnomAD v3: 19-11420918-C-A
• gnomAD v4: 19-11420918-C-A
• MyVariant Identifiers: chr19:g.11531586C>A (hg19) ; chr19:g.11420918C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11420918C>A , CM000681.2:g.11420918C>A	GRCh38
NC_000019.9:g.11531586C>A , CM000681.1:g.11531586C>A	GRCh37
NC_000019.8:g.11392586C>A	NCBI36
NG_041777.1:g.19865G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1705G>T MANE Select	ENSP00000348757.3:p.Val569Leu
ENST00000356392.8:c.1705G>T	ENSP00000348757.3:p.Val569Leu
ENST00000586836.5:c.1132G>T	ENSP00000467429.1:p.Val378Leu
ENST00000591179.5:c.1525G>T	ENSP00000466800.1:p.Val509Leu
ENST00000591345.5:c.*1624G>T	ENSP00000467313.1:n.*1624G>T
NM_001302453.1:c.1543G>T	NP_001289382.1:p.Val515Leu
NM_001302454.1:c.1525G>T	NP_001289383.1:p.Val509Leu
NM_145045.4:c.1705G>T	NP_659482.3:p.Val569Leu
NM_145045.5:c.1705G>T MANE Select	NP_659482.3:p.Val569Leu
NM_001302454.2:c.1525G>T	NP_001289383.1:p.Val509Leu