Canonical Allele Identifier: CA9548780

Gene: ODAD1

Linked Data

• ClinVar Variation Id: 241868
• ClinVar RCV Id: RCV000226430 ; RCV000253482 ; RCV001573215 ; RCV003650545
• dbSNP Id: rs73585360
• ExAC: 19:48805977 C / T
• gnomAD v2: 19-48805977-C-T
• gnomAD v3: 19-48302720-C-T
• gnomAD v4: 19-48302720-C-T
• MyVariant Identifiers: chr19:g.48805977C>T (hg19) ; chr19:g.48302720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48302720C>T , CM000681.2:g.48302720C>T	GRCh38
NC_000019.9:g.48805977C>T , CM000681.1:g.48805977C>T	GRCh37
NC_000019.8:g.53497789C>T	NCBI36
NG_033251.1:g.22356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474199.6:c.1214G>A	ENSP00000501357.1:p.Arg405Gln
ENST00000674207.1:c.*922G>A	ENSP00000501374.1:n.*922G>A
ENST00000674294.1:c.1214G>A MANE Select	ENSP00000501363.1:p.Arg405Gln
ENST00000315396.7:c.1103G>A	ENSP00000318429.7:p.Arg368Gln
ENST00000474199.5:n.1231G>A
ENST00000497273.1:n.532G>A
NM_144577.3:c.1103G>A	NP_653178.3:p.Arg368Gln
XM_005259413.2:c.1214G>A	XP_005259470.1:p.Arg405Gln
XM_005259414.2:c.1214G>A	XP_005259471.1:p.Arg405Gln
XM_005259415.2:c.1214G>A	XP_005259472.1:p.Arg405Gln
XM_005259416.3:c.530G>A	XP_005259473.1:p.Arg177Gln
XM_011527515.1:c.1103G>A	XP_011525817.1:p.Arg368Gln
XM_011527516.1:c.1103G>A	XP_011525818.1:p.Arg368Gln
XM_011527517.1:c.1214G>A	XP_011525819.1:p.Arg405Gln
XM_011527518.1:c.1214G>A	XP_011525820.1:p.Arg405Gln
NM_001364171.1:c.1214G>A	NP_001351100.1:p.Arg405Gln
NM_144577.4:c.1103G>A	NP_653178.3:p.Arg368Gln
XM_005259414.3:c.1214G>A	XP_005259471.1:p.Arg405Gln
XM_005259415.3:c.1214G>A	XP_005259472.1:p.Arg405Gln
XM_005259416.4:c.530G>A	XP_005259473.1:p.Arg177Gln
XM_011527515.2:c.1103G>A	XP_011525817.1:p.Arg368Gln
XM_011527516.2:c.1103G>A	XP_011525818.1:p.Arg368Gln
XM_017027483.1:c.938G>A	XP_016882972.1:p.Arg313Gln
XM_024451782.1:c.1253G>A	XP_024307550.1:p.Arg418Gln
XM_024451783.1:c.1214G>A	XP_024307551.1:p.Arg405Gln
NM_001364171.2:c.1214G>A MANE Select	NP_001351100.1:p.Arg405Gln