Canonical Allele Identifier: CA305327051

Gene: ODAD3

Linked Data

• dbSNP Id: rs995639192
• gnomAD v4: 19-11422591-G-C
• MyVariant Identifiers: chr19:g.11533259G>C (hg19) ; chr19:g.11422591G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422591G>C , CM000681.2:g.11422591G>C	GRCh38
NC_000019.9:g.11533259G>C , CM000681.1:g.11533259G>C	GRCh37
NC_000019.8:g.11394259G>C	NCBI36
NG_041777.1:g.18192C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1314C>G MANE Select	ENSP00000348757.3:p.Leu438=
ENST00000356392.8:c.1314C>G	ENSP00000348757.3:p.Leu438=
ENST00000586836.5:c.741C>G	ENSP00000467429.1:p.Leu247=
ENST00000591179.5:c.1134C>G	ENSP00000466800.1:p.Leu378=
ENST00000591345.5:c.*1233C>G	ENSP00000467313.1:n.*1233C>G
NM_001302453.1:c.1152C>G	NP_001289382.1:p.Leu384=
NM_001302454.1:c.1134C>G	NP_001289383.1:p.Leu378=
NM_145045.4:c.1314C>G	NP_659482.3:p.Leu438=
NM_145045.5:c.1314C>G MANE Select	NP_659482.3:p.Leu438=
NM_001302454.2:c.1134C>G	NP_001289383.1:p.Leu378=