Canonical Allele Identifier: CA130418

Gene: ODAD1

Linked Data

• ClinVar Variation Id: 39640
• ClinVar RCV Id: RCV000032840 ; RCV000629509 ; RCV001093249
• dbSNP Id: rs201133219
• ExAC: 19:48801252 C / T
• gnomAD v2: 19-48801252-C-T
• gnomAD v3: 19-48297995-C-T
• gnomAD v4: 19-48297995-C-T
• MyVariant Identifiers: chr19:g.48801252C>T (hg19) ; chr19:g.48297995C>T (hg38)
• PubMed: PMID:23261302

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48297995C>T , CM000681.2:g.48297995C>T	GRCh38
NC_000019.9:g.48801252C>T , CM000681.1:g.48801252C>T	GRCh37
NC_000019.8:g.53493064C>T	NCBI36
NG_033251.1:g.27081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474199.6:c.1502+5G>A	ENSP00000501357.1:n.1502+5G>A
ENST00000674207.1:c.*1112+182G>A	ENSP00000501374.1:n.*1112+182G>A
ENST00000674294.1:c.1502+5G>A MANE Select	ENSP00000501363.1:n.1502+5G>A
ENST00000315396.7:c.1391+5G>A	ENSP00000318429.7:n.1391+5G>A
ENST00000474199.5:n.1519+5G>A
ENST00000497273.1:n.923G>A
NM_144577.3:c.1391+5G>A	NP_653178.3:n.1391+5G>A
XM_005259413.2:c.1502+5G>A	XP_005259470.1:n.1502+5G>A
XM_005259414.2:c.1502+5G>A	XP_005259471.1:n.1502+5G>A
XM_005259415.2:c.1502+5G>A	XP_005259472.1:n.1502+5G>A
XM_005259416.3:c.818+5G>A	XP_005259473.1:n.818+5G>A
XM_011527515.1:c.1391+5G>A	XP_011525817.1:n.1391+5G>A
XM_011527516.1:c.1391+5G>A	XP_011525818.1:n.1391+5G>A
NM_001364171.1:c.1502+5G>A	NP_001351100.1:n.1502+5G>A
NM_144577.4:c.1391+5G>A	NP_653178.3:n.1391+5G>A
XM_005259414.3:c.1502+5G>A	XP_005259471.1:n.1502+5G>A
XM_005259415.3:c.1502+5G>A	XP_005259472.1:n.1502+5G>A
XM_005259416.4:c.818+5G>A	XP_005259473.1:n.818+5G>A
XM_011527515.2:c.1391+5G>A	XP_011525817.1:n.1391+5G>A
XM_011527516.2:c.1391+5G>A	XP_011525818.1:n.1391+5G>A
XM_017027483.1:c.1226+5G>A	XP_016882972.1:n.1226+5G>A
XM_024451782.1:c.1541+5G>A	XP_024307550.1:n.1541+5G>A
XM_024451783.1:c.1502+5G>A	XP_024307551.1:n.1502+5G>A
NM_001364171.2:c.1502+5G>A MANE Select	NP_001351100.1:n.1502+5G>A