Canonical Allele Identifier: CA9212095

Gene: ODAD3

Linked Data

• ClinVar Variation Id: 1897210
• ClinVar RCV Id: RCV002572177
• dbSNP Id: rs373223402
• ExAC: 19:11533468 C / T
• gnomAD v2: 19-11533468-C-T
• gnomAD v4: 19-11422800-C-T
• MyVariant Identifiers: chr19:g.11533468C>T (hg19) ; chr19:g.11422800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422800C>T , CM000681.2:g.11422800C>T	GRCh38
NC_000019.9:g.11533468C>T , CM000681.1:g.11533468C>T	GRCh37
NC_000019.8:g.11394468C>T	NCBI36
NG_041777.1:g.17983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1178G>A MANE Select	ENSP00000348757.3:p.Ser393Asn
ENST00000356392.8:c.1178G>A	ENSP00000348757.3:p.Ser393Asn
ENST00000586836.5:c.605G>A	ENSP00000467429.1:p.Ser202Asn
ENST00000591179.5:c.998G>A	ENSP00000466800.1:p.Ser333Asn
ENST00000591345.5:c.*1097G>A	ENSP00000467313.1:n.*1097G>A
NM_001302453.1:c.1016G>A	NP_001289382.1:p.Ser339Asn
NM_001302454.1:c.998G>A	NP_001289383.1:p.Ser333Asn
NM_145045.4:c.1178G>A	NP_659482.3:p.Ser393Asn
XM_017026241.1:c.*72G>A	XP_016881730.1:n.*72G>A
NM_145045.5:c.1178G>A MANE Select	NP_659482.3:p.Ser393Asn
NM_001302454.2:c.998G>A	NP_001289383.1:p.Ser333Asn