Canonical Allele Identifier: CA406655754
Community Standard Title: NM_001364171.2(ODAD1):c.1424A>C (p.Asp475Ala)
Gene: ODAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48298078T>G , CM000681.2:g.48298078T>G GRCh38
NC_000019.9:g.48801335T>G , CM000681.1:g.48801335T>G GRCh37
NC_000019.8:g.53493147T>G NCBI36
NG_033251.1:g.26998A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001364171.2:c.1424A>C MANE Select NP_001351100.1:p.Asp475Ala
ENST00000674294.1:c.1424A>C MANE Select ENSP00000501363.1:p.Asp475Ala
NM_001364171.1:c.1424A>C NP_001351100.1:p.Asp475Ala
NM_144577.3:c.1313A>C NP_653178.3:p.Asp438Ala
NM_144577.4:c.1313A>C NP_653178.3:p.Asp438Ala
ENST00000315396.7:c.1313A>C ENSP00000318429.7:p.Asp438Ala
ENST00000474199.5:n.1441A>C
ENST00000474199.6:c.1424A>C ENSP00000501357.1:p.Asp475Ala
ENST00000497273.1:n.840A>C
ENST00000674207.1:c.*1112+99A>C ENSP00000501374.1:n.*1112+99A>C
XM_005259413.2:c.1424A>C XP_005259470.1:p.Asp475Ala
XM_005259414.2:c.1424A>C XP_005259471.1:p.Asp475Ala
XM_005259414.3:c.1424A>C XP_005259471.1:p.Asp475Ala
XM_005259415.2:c.1424A>C XP_005259472.1:p.Asp475Ala
XM_005259415.3:c.1424A>C XP_005259472.1:p.Asp475Ala
XM_005259416.3:c.740A>C XP_005259473.1:p.Asp247Ala
XM_005259416.4:c.740A>C XP_005259473.1:p.Asp247Ala
XM_011527515.1:c.1313A>C XP_011525817.1:p.Asp438Ala
XM_011527515.2:c.1313A>C XP_011525817.1:p.Asp438Ala
XM_011527516.1:c.1313A>C XP_011525818.1:p.Asp438Ala
XM_011527516.2:c.1313A>C XP_011525818.1:p.Asp438Ala
XM_017027483.1:c.1148A>C XP_016882972.1:p.Asp383Ala
XM_024451782.1:c.1463A>C XP_024307550.1:p.Asp488Ala
XM_024451783.1:c.1424A>C XP_024307551.1:p.Asp475Ala