Canonical Allele Identifier: CA508031248
Community Standard Title: NM_001364171.2(ODAD1):c.1419G>C (p.Leu473=)
Gene: ODAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48298083C>G , CM000681.2:g.48298083C>G GRCh38
NC_000019.9:g.48801340C>G , CM000681.1:g.48801340C>G GRCh37
NC_000019.8:g.53493152C>G NCBI36
NG_033251.1:g.26993G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001364171.2:c.1419G>C MANE Select NP_001351100.1:p.Leu473=
ENST00000674294.1:c.1419G>C MANE Select ENSP00000501363.1:p.Leu473=
NM_001364171.1:c.1419G>C NP_001351100.1:p.Leu473=
NM_144577.3:c.1308G>C NP_653178.3:p.Leu436=
NM_144577.4:c.1308G>C NP_653178.3:p.Leu436=
ENST00000315396.7:c.1308G>C ENSP00000318429.7:p.Leu436=
ENST00000474199.5:n.1436G>C
ENST00000474199.6:c.1419G>C ENSP00000501357.1:p.Leu473=
ENST00000497273.1:n.835G>C
ENST00000674207.1:c.*1112+94G>C ENSP00000501374.1:n.*1112+94G>C
XM_005259413.2:c.1419G>C XP_005259470.1:p.Leu473=
XM_005259414.2:c.1419G>C XP_005259471.1:p.Leu473=
XM_005259414.3:c.1419G>C XP_005259471.1:p.Leu473=
XM_005259415.2:c.1419G>C XP_005259472.1:p.Leu473=
XM_005259415.3:c.1419G>C XP_005259472.1:p.Leu473=
XM_005259416.3:c.735G>C XP_005259473.1:p.Leu245=
XM_005259416.4:c.735G>C XP_005259473.1:p.Leu245=
XM_011527515.1:c.1308G>C XP_011525817.1:p.Leu436=
XM_011527515.2:c.1308G>C XP_011525817.1:p.Leu436=
XM_011527516.1:c.1308G>C XP_011525818.1:p.Leu436=
XM_011527516.2:c.1308G>C XP_011525818.1:p.Leu436=
XM_017027483.1:c.1143G>C XP_016882972.1:p.Leu381=
XM_024451782.1:c.1458G>C XP_024307550.1:p.Leu486=
XM_024451783.1:c.1419G>C XP_024307551.1:p.Leu473=