Canonical Allele Identifier: CA170851

Gene: ODAD3

Linked Data

• ClinVar Variation Id: 156365
• ClinVar RCV Id: RCV000144449 ; RCV000190932
• dbSNP Id: rs587777779
• MyVariant Identifiers: chr19:g.11537002C>A (hg19) ; chr19:g.11426182C>A (hg38)
• PubMed: PMID:20301301 ; PMID:25192045 ; PMID:25224326

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11426182C>A , CM000681.2:g.11426182C>A	GRCh38
NC_000019.9:g.11537002C>A , CM000681.1:g.11537002C>A	GRCh37
NC_000019.8:g.11398002C>A	NCBI36
NG_041777.1:g.14601G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356392.9:c.925G>T MANE Select	ENSP00000348757.3:p.Glu309Ter
ENST00000356392.8:c.925G>T	ENSP00000348757.3:p.Glu309Ter
ENST00000586836.5:c.352G>T	ENSP00000467429.1:p.Glu118Ter
ENST00000591179.5:c.745G>T	ENSP00000466800.1:p.Glu249Ter
ENST00000591345.5:c.*844G>T	ENSP00000467313.1:n.*844G>T
NM_001302453.1:c.763G>T	NP_001289382.1:p.Glu255Ter
NM_001302454.1:c.745G>T	NP_001289383.1:p.Glu249Ter
NM_145045.4:c.925G>T	NP_659482.3:p.Glu309Ter
XM_017026241.1:c.904+21G>T	XP_016881730.1:n.904+21G>T
NM_145045.5:c.925G>T MANE Select	NP_659482.3:p.Glu309Ter
NM_001302454.2:c.745G>T	NP_001289383.1:p.Glu249Ter