Canonical Allele Identifier: CA404120574

Gene: ODAD3

Linked Data

• ClinVar Variation Id: 3203989
• ClinVar RCV Id: RCV004496806
• gnomAD v4: 19-11422851-C-A
• MyVariant Identifiers: chr19:g.11533519C>A (hg19) ; chr19:g.11422851C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422851C>A , CM000681.2:g.11422851C>A	GRCh38
NC_000019.9:g.11533519C>A , CM000681.1:g.11533519C>A	GRCh37
NC_000019.8:g.11394519C>A	NCBI36
NG_041777.1:g.17932G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1127G>T MANE Select	ENSP00000348757.3:p.Arg376Leu
ENST00000356392.8:c.1127G>T	ENSP00000348757.3:p.Arg376Leu
ENST00000586836.5:c.554G>T	ENSP00000467429.1:p.Arg185Leu
ENST00000591179.5:c.947G>T	ENSP00000466800.1:p.Arg316Leu
ENST00000591345.5:c.*1046G>T	ENSP00000467313.1:n.*1046G>T
NM_001302453.1:c.965G>T	NP_001289382.1:p.Arg322Leu
NM_001302454.1:c.947G>T	NP_001289383.1:p.Arg316Leu
NM_145045.4:c.1127G>T	NP_659482.3:p.Arg376Leu
XM_017026241.1:c.*21G>T	XP_016881730.1:n.*21G>T
NM_145045.5:c.1127G>T MANE Select	NP_659482.3:p.Arg376Leu
NM_001302454.2:c.947G>T	NP_001289383.1:p.Arg316Leu