Canonical Allele Identifier: CA9548795
Community Standard Title: NM_001364171.2(ODAD1):c.1175C>T (p.Ser392Leu)
Gene: ODAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48302759G>A , CM000681.2:g.48302759G>A GRCh38
NC_000019.9:g.48806016G>A , CM000681.1:g.48806016G>A GRCh37
NC_000019.8:g.53497828G>A NCBI36
NG_033251.1:g.22317C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001364171.2:c.1175C>T MANE Select NP_001351100.1:p.Ser392Leu
ENST00000674294.1:c.1175C>T MANE Select ENSP00000501363.1:p.Ser392Leu
NM_001364171.1:c.1175C>T NP_001351100.1:p.Ser392Leu
NM_144577.3:c.1064C>T NP_653178.3:p.Ser355Leu
NM_144577.4:c.1064C>T NP_653178.3:p.Ser355Leu
ENST00000315396.7:c.1064C>T ENSP00000318429.7:p.Ser355Leu
ENST00000474199.5:n.1192C>T
ENST00000474199.6:c.1175C>T ENSP00000501357.1:p.Ser392Leu
ENST00000497273.1:n.493C>T
ENST00000674207.1:c.*883C>T ENSP00000501374.1:n.*883C>T
XM_005259413.2:c.1175C>T XP_005259470.1:p.Ser392Leu
XM_005259414.2:c.1175C>T XP_005259471.1:p.Ser392Leu
XM_005259414.3:c.1175C>T XP_005259471.1:p.Ser392Leu
XM_005259415.2:c.1175C>T XP_005259472.1:p.Ser392Leu
XM_005259415.3:c.1175C>T XP_005259472.1:p.Ser392Leu
XM_005259416.3:c.491C>T XP_005259473.1:p.Ser164Leu
XM_005259416.4:c.491C>T XP_005259473.1:p.Ser164Leu
XM_011527515.1:c.1064C>T XP_011525817.1:p.Ser355Leu
XM_011527515.2:c.1064C>T XP_011525817.1:p.Ser355Leu
XM_011527516.1:c.1064C>T XP_011525818.1:p.Ser355Leu
XM_011527516.2:c.1064C>T XP_011525818.1:p.Ser355Leu
XM_011527517.1:c.1175C>T XP_011525819.1:p.Ser392Leu
XM_011527518.1:c.1175C>T XP_011525820.1:p.Ser392Leu
XM_017027483.1:c.899C>T XP_016882972.1:p.Ser300Leu
XM_024451782.1:c.1214C>T XP_024307550.1:p.Ser405Leu
XM_024451783.1:c.1175C>T XP_024307551.1:p.Ser392Leu