Canonical Allele Identifier: CA404119780

Gene: ODAD3

Linked Data

• gnomAD v4: 19-11422577-C-A
• MyVariant Identifiers: chr19:g.11533245C>A (hg19) ; chr19:g.11422577C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422577C>A , CM000681.2:g.11422577C>A	GRCh38
NC_000019.9:g.11533245C>A , CM000681.1:g.11533245C>A	GRCh37
NC_000019.8:g.11394245C>A	NCBI36
NG_041777.1:g.18206G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1328G>T MANE Select	ENSP00000348757.3:p.Arg443Leu
ENST00000356392.8:c.1328G>T	ENSP00000348757.3:p.Arg443Leu
ENST00000586836.5:c.755G>T	ENSP00000467429.1:p.Arg252Leu
ENST00000591179.5:c.1148G>T	ENSP00000466800.1:p.Arg383Leu
ENST00000591345.5:c.*1247G>T	ENSP00000467313.1:n.*1247G>T
NM_001302453.1:c.1166G>T	NP_001289382.1:p.Arg389Leu
NM_001302454.1:c.1148G>T	NP_001289383.1:p.Arg383Leu
NM_145045.4:c.1328G>T	NP_659482.3:p.Arg443Leu
NM_145045.5:c.1328G>T MANE Select	NP_659482.3:p.Arg443Leu
NM_001302454.2:c.1148G>T	NP_001289383.1:p.Arg383Leu