Canonical Allele Identifier: CA130416

Gene: ODAD1

Linked Data

• ClinVar Variation Id: 39638
• ClinVar RCV Id: RCV000032838 ; RCV001387740
• dbSNP Id: rs606231238
• ExAC: 19:48814809 C / T
• gnomAD v2: 19-48814809-C-T
• gnomAD v3: 19-48311552-C-T
• gnomAD v4: 19-48311552-C-T
• MyVariant Identifiers: chr19:g.48814809C>T (hg19) ; chr19:g.48814809_48814812delinsTCTT (hg19) ; chr19:g.48311552C>T (hg38)
• PubMed: PMID:23261303

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48311552C>T , CM000681.2:g.48311552C>T	GRCh38
NC_000019.9:g.48814809C>T , CM000681.1:g.48814809C>T	GRCh37
NC_000019.8:g.53506621C>T	NCBI36
NG_033251.1:g.13524G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474199.6:c.597+1G>A	ENSP00000501357.1:n.597+1G>A
ENST00000674207.1:c.*305+1G>A	ENSP00000501374.1:n.*305+1G>A
ENST00000674294.1:c.597+1G>A MANE Select	ENSP00000501363.1:n.597+1G>A
ENST00000315396.7:c.486+1G>A	ENSP00000318429.7:n.486+1G>A
ENST00000474199.5:n.614+1G>A
ENST00000504608.6:n.438+1G>A
NM_144577.3:c.486+1G>A	NP_653178.3:n.486+1G>A
XM_005259413.2:c.597+1G>A	XP_005259470.1:n.597+1G>A
XM_005259414.2:c.597+1G>A	XP_005259471.1:n.597+1G>A
XM_005259415.2:c.597+1G>A	XP_005259472.1:n.597+1G>A
XM_011527515.1:c.486+1G>A	XP_011525817.1:n.486+1G>A
XM_011527516.1:c.486+1G>A	XP_011525818.1:n.486+1G>A
XM_011527517.1:c.597+1G>A	XP_011525819.1:n.597+1G>A
XM_011527518.1:c.597+1G>A	XP_011525820.1:n.597+1G>A
NM_001364171.1:c.597+1G>A	NP_001351100.1:n.597+1G>A
NM_144577.4:c.486+1G>A	NP_653178.3:n.486+1G>A
XM_005259414.3:c.597+1G>A	XP_005259471.1:n.597+1G>A
XM_005259415.3:c.597+1G>A	XP_005259472.1:n.597+1G>A
XM_011527515.2:c.486+1G>A	XP_011525817.1:n.486+1G>A
XM_011527516.2:c.486+1G>A	XP_011525818.1:n.486+1G>A
XM_017027483.1:c.321+1G>A	XP_016882972.1:n.321+1G>A
XM_024451782.1:c.636+1G>A	XP_024307550.1:n.636+1G>A
XM_024451783.1:c.597+1G>A	XP_024307551.1:n.597+1G>A
NM_001364171.2:c.597+1G>A MANE Select	NP_001351100.1:n.597+1G>A