Canonical Allele Identifier: CA9548487
Community Standard Title: NM_001364171.2(ODAD1):c.2056G>A (p.Val686Ile)
Gene: ODAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48297044C>T , CM000681.2:g.48297044C>T GRCh38
NC_000019.9:g.48800301C>T , CM000681.1:g.48800301C>T GRCh37
NC_000019.8:g.53492113C>T NCBI36
NG_033251.1:g.28032G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001364171.2:c.2056G>A MANE Select NP_001351100.1:p.Val686Ile
ENST00000674294.1:c.2056G>A MANE Select ENSP00000501363.1:p.Val686Ile
NM_001364171.1:c.2056G>A NP_001351100.1:p.Val686Ile
NM_144577.3:c.1945G>A NP_653178.3:p.Val649Ile
NM_144577.4:c.1945G>A NP_653178.3:p.Val649Ile
ENST00000315396.7:c.1945G>A ENSP00000318429.7:p.Val649Ile
ENST00000474199.5:n.2144G>A
ENST00000474199.6:c.*396G>A ENSP00000501357.1:n.*396G>A
ENST00000497273.1:n.1491G>A
ENST00000674207.1:c.*1661G>A ENSP00000501374.1:n.*1661G>A
XM_005259413.2:c.2056G>A XP_005259470.1:p.Val686Ile
XM_005259414.2:c.2056G>A XP_005259471.1:p.Val686Ile
XM_005259414.3:c.2056G>A XP_005259471.1:p.Val686Ile
XM_005259415.2:c.2056G>A XP_005259472.1:p.Val686Ile
XM_005259415.3:c.2056G>A XP_005259472.1:p.Val686Ile
XM_005259416.3:c.1372G>A XP_005259473.1:p.Val458Ile
XM_005259416.4:c.1372G>A XP_005259473.1:p.Val458Ile
XM_011527515.1:c.1945G>A XP_011525817.1:p.Val649Ile
XM_011527515.2:c.1945G>A XP_011525817.1:p.Val649Ile
XM_011527516.1:c.1945G>A XP_011525818.1:p.Val649Ile
XM_011527516.2:c.1945G>A XP_011525818.1:p.Val649Ile
XM_017027483.1:c.1780G>A XP_016882972.1:p.Val594Ile
XM_024451782.1:c.2095G>A XP_024307550.1:p.Val699Ile
XM_024451783.1:c.2056G>A XP_024307551.1:p.Val686Ile