Canonical Allele Identifier: CA404124178
Community Standard Title: NM_145045.5(ODAD3):c.694C>T (p.Gln232Ter)
Gene: ODAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11426703G>A , CM000681.2:g.11426703G>A GRCh38
NC_000019.9:g.11537523G>A , CM000681.1:g.11537523G>A GRCh37
NC_000019.8:g.11398523G>A NCBI36
NG_041777.1:g.14080C>T

Transcript Alleles

HGVS Amino-acid Change
NM_145045.5:c.694C>T MANE Select NP_659482.3:p.Gln232Ter
ENST00000356392.9:c.694C>T MANE Select ENSP00000348757.3:p.Gln232Ter
NM_001302453.1:c.532C>T NP_001289382.1:p.Gln178Ter
NM_001302454.1:c.535-132C>T NP_001289383.1:n.535-132C>T
NM_001302454.2:c.535-132C>T NP_001289383.1:n.535-132C>T
NM_145045.4:c.694C>T NP_659482.3:p.Gln232Ter
ENST00000356392.8:c.694C>T ENSP00000348757.3:p.Gln232Ter
ENST00000586836.5:c.121C>T ENSP00000467429.1:p.Gln41Ter
ENST00000591179.5:c.535-132C>T ENSP00000466800.1:n.535-132C>T
ENST00000591345.5:c.*613C>T ENSP00000467313.1:n.*613C>T
XM_017026241.1:c.694C>T XP_016881730.1:p.Gln232Ter