Canonical Allele Identifier: CA9548742
Community Standard Title: NM_001364171.2(ODAD1):c.1313G>A (p.Ser438Asn)
Gene: ODAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48298268C>T , CM000681.2:g.48298268C>T GRCh38
NC_000019.9:g.48801525C>T , CM000681.1:g.48801525C>T GRCh37
NC_000019.8:g.53493337C>T NCBI36
NG_033251.1:g.26808G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001364171.2:c.1313G>A MANE Select NP_001351100.1:p.Ser438Asn
ENST00000674294.1:c.1313G>A MANE Select ENSP00000501363.1:p.Ser438Asn
NM_001364171.1:c.1313G>A NP_001351100.1:p.Ser438Asn
NM_144577.3:c.1202G>A NP_653178.3:p.Ser401Asn
NM_144577.4:c.1202G>A NP_653178.3:p.Ser401Asn
ENST00000315396.7:c.1202G>A ENSP00000318429.7:p.Ser401Asn
ENST00000474199.5:n.1330G>A
ENST00000474199.6:c.1313G>A ENSP00000501357.1:p.Ser438Asn
ENST00000497273.1:n.729G>A
ENST00000674207.1:c.*1021G>A ENSP00000501374.1:n.*1021G>A
XM_005259413.2:c.1313G>A XP_005259470.1:p.Ser438Asn
XM_005259414.2:c.1313G>A XP_005259471.1:p.Ser438Asn
XM_005259414.3:c.1313G>A XP_005259471.1:p.Ser438Asn
XM_005259415.2:c.1313G>A XP_005259472.1:p.Ser438Asn
XM_005259415.3:c.1313G>A XP_005259472.1:p.Ser438Asn
XM_005259416.3:c.629G>A XP_005259473.1:p.Ser210Asn
XM_005259416.4:c.629G>A XP_005259473.1:p.Ser210Asn
XM_011527515.1:c.1202G>A XP_011525817.1:p.Ser401Asn
XM_011527515.2:c.1202G>A XP_011525817.1:p.Ser401Asn
XM_011527516.1:c.1202G>A XP_011525818.1:p.Ser401Asn
XM_011527516.2:c.1202G>A XP_011525818.1:p.Ser401Asn
XM_011527517.1:c.*28G>A XP_011525819.1:n.*28G>A
XM_017027483.1:c.1037G>A XP_016882972.1:p.Ser346Asn
XM_024451782.1:c.1352G>A XP_024307550.1:p.Ser451Asn
XM_024451783.1:c.1313G>A XP_024307551.1:p.Ser438Asn