Canonical Allele Identifier: CA130413

Gene: ODAD1

Linked Data

• ClinVar Variation Id: 39637
• ClinVar RCV Id: RCV000032837 ; RCV000190918 ; RCV000231978 ; RCV001579702
• dbSNP Id: rs147718607
• ExAC: 19:48807210 C / T
• gnomAD v2: 19-48807210-C-T
• gnomAD v3: 19-48303953-C-T
• gnomAD v4: 19-48303953-C-T
• MyVariant Identifiers: chr19:g.48807210C>T (hg19) ; chr19:g.48303953C>T (hg38)
• PubMed: PMID:20301301 ; PMID:23261302 ; PMID:23261303

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48303953C>T , CM000681.2:g.48303953C>T	GRCh38
NC_000019.9:g.48807210C>T , CM000681.1:g.48807210C>T	GRCh37
NC_000019.8:g.53499022C>T	NCBI36
NG_033251.1:g.21123G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474199.6:c.853G>A	ENSP00000501357.1:p.Ala285Thr
ENST00000674207.1:c.*561G>A	ENSP00000501374.1:n.*561G>A
ENST00000674294.1:c.853G>A MANE Select	ENSP00000501363.1:p.Ala285Thr
ENST00000315396.7:c.742G>A	ENSP00000318429.7:p.Ala248Thr
ENST00000474199.5:n.870G>A
NM_144577.3:c.742G>A	NP_653178.3:p.Ala248Thr
XM_005259413.2:c.853G>A	XP_005259470.1:p.Ala285Thr
XM_005259414.2:c.853G>A	XP_005259471.1:p.Ala285Thr
XM_005259415.2:c.853G>A	XP_005259472.1:p.Ala285Thr
XM_005259416.3:c.169G>A	XP_005259473.1:p.Ala57Thr
XM_011527515.1:c.742G>A	XP_011525817.1:p.Ala248Thr
XM_011527516.1:c.742G>A	XP_011525818.1:p.Ala248Thr
XM_011527517.1:c.853G>A	XP_011525819.1:p.Ala285Thr
XM_011527518.1:c.853G>A	XP_011525820.1:p.Ala285Thr
NM_001364171.1:c.853G>A	NP_001351100.1:p.Ala285Thr
NM_144577.4:c.742G>A	NP_653178.3:p.Ala248Thr
XM_005259414.3:c.853G>A	XP_005259471.1:p.Ala285Thr
XM_005259415.3:c.853G>A	XP_005259472.1:p.Ala285Thr
XM_005259416.4:c.169G>A	XP_005259473.1:p.Ala57Thr
XM_011527515.2:c.742G>A	XP_011525817.1:p.Ala248Thr
XM_011527516.2:c.742G>A	XP_011525818.1:p.Ala248Thr
XM_017027483.1:c.577G>A	XP_016882972.1:p.Ala193Thr
XM_024451782.1:c.892G>A	XP_024307550.1:p.Ala298Thr
XM_024451783.1:c.853G>A	XP_024307551.1:p.Ala285Thr
NM_001364171.2:c.853G>A MANE Select	NP_001351100.1:p.Ala285Thr