Canonical Allele Identifier: CA309294783
Community Standard Title: NM_001364171.2(ODAD1):c.1430C>G (p.Ala477Gly)
Gene: ODAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48298072G>C , CM000681.2:g.48298072G>C GRCh38
NC_000019.9:g.48801329G>C , CM000681.1:g.48801329G>C GRCh37
NC_000019.8:g.53493141G>C NCBI36
NG_033251.1:g.27004C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001364171.2:c.1430C>G MANE Select NP_001351100.1:p.Ala477Gly
ENST00000674294.1:c.1430C>G MANE Select ENSP00000501363.1:p.Ala477Gly
NM_001364171.1:c.1430C>G NP_001351100.1:p.Ala477Gly
NM_144577.3:c.1319C>G NP_653178.3:p.Ala440Gly
NM_144577.4:c.1319C>G NP_653178.3:p.Ala440Gly
ENST00000315396.7:c.1319C>G ENSP00000318429.7:p.Ala440Gly
ENST00000474199.5:n.1447C>G
ENST00000474199.6:c.1430C>G ENSP00000501357.1:p.Ala477Gly
ENST00000497273.1:n.846C>G
ENST00000674207.1:c.*1112+105C>G ENSP00000501374.1:n.*1112+105C>G
XM_005259413.2:c.1430C>G XP_005259470.1:p.Ala477Gly
XM_005259414.2:c.1430C>G XP_005259471.1:p.Ala477Gly
XM_005259414.3:c.1430C>G XP_005259471.1:p.Ala477Gly
XM_005259415.2:c.1430C>G XP_005259472.1:p.Ala477Gly
XM_005259415.3:c.1430C>G XP_005259472.1:p.Ala477Gly
XM_005259416.3:c.746C>G XP_005259473.1:p.Ala249Gly
XM_005259416.4:c.746C>G XP_005259473.1:p.Ala249Gly
XM_011527515.1:c.1319C>G XP_011525817.1:p.Ala440Gly
XM_011527515.2:c.1319C>G XP_011525817.1:p.Ala440Gly
XM_011527516.1:c.1319C>G XP_011525818.1:p.Ala440Gly
XM_011527516.2:c.1319C>G XP_011525818.1:p.Ala440Gly
XM_017027483.1:c.1154C>G XP_016882972.1:p.Ala385Gly
XM_024451782.1:c.1469C>G XP_024307550.1:p.Ala490Gly
XM_024451783.1:c.1430C>G XP_024307551.1:p.Ala477Gly