Canonical Allele Identifier: CA505749447

Gene: ODAD3

Linked Data

• ClinVar Variation Id: 477979
• ClinVar RCV Id: RCV000526078
• dbSNP Id: rs1555721612
• gnomAD v4: 19-11422703-C-T
• MyVariant Identifiers: chr19:g.11533371C>T (hg19) ; chr19:g.11422703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422703C>T , CM000681.2:g.11422703C>T	GRCh38
NC_000019.9:g.11533371C>T , CM000681.1:g.11533371C>T	GRCh37
NC_000019.8:g.11394371C>T	NCBI36
NG_041777.1:g.18080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1275G>A MANE Select	ENSP00000348757.3:p.Val425=
ENST00000356392.8:c.1275G>A	ENSP00000348757.3:p.Val425=
ENST00000586836.5:c.702G>A	ENSP00000467429.1:p.Val234=
ENST00000591179.5:c.1095G>A	ENSP00000466800.1:p.Val365=
ENST00000591345.5:c.*1194G>A	ENSP00000467313.1:n.*1194G>A
NM_001302453.1:c.1113G>A	NP_001289382.1:p.Val371=
NM_001302454.1:c.1095G>A	NP_001289383.1:p.Val365=
NM_145045.4:c.1275G>A	NP_659482.3:p.Val425=
NM_145045.5:c.1275G>A MANE Select	NP_659482.3:p.Val425=
NM_001302454.2:c.1095G>A	NP_001289383.1:p.Val365=