Canonical Allele Identifier: CA9212410
Community Standard Title: NM_145045.5(ODAD3):c.424C>G (p.Leu142Val)
Gene: ODAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11430719G>C , CM000681.2:g.11430719G>C GRCh38
NC_000019.9:g.11541539G>C , CM000681.1:g.11541539G>C GRCh37
NC_000019.8:g.11402539G>C NCBI36
NG_009300.1:g.271G>C
NG_041777.1:g.10064C>G

Transcript Alleles

HGVS Amino-acid Change
NM_145045.5:c.424C>G MANE Select NP_659482.3:p.Leu142Val
ENST00000356392.9:c.424C>G MANE Select ENSP00000348757.3:p.Leu142Val
NM_001302453.1:c.262C>G NP_001289382.1:p.Leu88Val
NM_001302454.1:c.366+180C>G NP_001289383.1:n.366+180C>G
NM_001302454.2:c.366+180C>G NP_001289383.1:n.366+180C>G
NM_145045.4:c.424C>G NP_659482.3:p.Leu142Val
ENST00000356392.8:c.424C>G ENSP00000348757.3:p.Leu142Val
ENST00000586836.5:c.-150C>G ENSP00000467429.1:n.-150C>G
ENST00000591179.5:c.366+180C>G ENSP00000466800.1:n.366+180C>G
ENST00000591345.5:c.*343C>G ENSP00000467313.1:n.*343C>G
ENST00000593281.1:n.307C>G
XM_017026241.1:c.424C>G XP_016881730.1:p.Leu142Val