Canonical Allele Identifier: CA406660911
Community Standard Title: NM_001364171.2(ODAD1):c.988+2T>C
Gene: ODAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48303648A>G , CM000681.2:g.48303648A>G GRCh38
NC_000019.9:g.48806905A>G , CM000681.1:g.48806905A>G GRCh37
NC_000019.8:g.53498717A>G NCBI36
NG_033251.1:g.21428T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001364171.2:c.988+2T>C MANE Select NP_001351100.1:n.988+2T>C
ENST00000674294.1:c.988+2T>C MANE Select ENSP00000501363.1:n.988+2T>C
NM_001364171.1:c.988+2T>C NP_001351100.1:n.988+2T>C
NM_144577.3:c.877+2T>C NP_653178.3:n.877+2T>C
NM_144577.4:c.877+2T>C NP_653178.3:n.877+2T>C
ENST00000315396.7:c.877+2T>C ENSP00000318429.7:n.877+2T>C
ENST00000474199.5:n.1005+2T>C
ENST00000474199.6:c.988+2T>C ENSP00000501357.1:n.988+2T>C
ENST00000674207.1:c.*696+2T>C ENSP00000501374.1:n.*696+2T>C
XM_005259413.2:c.988+2T>C XP_005259470.1:n.988+2T>C
XM_005259414.2:c.988+2T>C XP_005259471.1:n.988+2T>C
XM_005259414.3:c.988+2T>C XP_005259471.1:n.988+2T>C
XM_005259415.2:c.988+2T>C XP_005259472.1:n.988+2T>C
XM_005259415.3:c.988+2T>C XP_005259472.1:n.988+2T>C
XM_005259416.3:c.304+2T>C XP_005259473.1:n.304+2T>C
XM_005259416.4:c.304+2T>C XP_005259473.1:n.304+2T>C
XM_011527515.1:c.877+2T>C XP_011525817.1:n.877+2T>C
XM_011527515.2:c.877+2T>C XP_011525817.1:n.877+2T>C
XM_011527516.1:c.877+2T>C XP_011525818.1:n.877+2T>C
XM_011527516.2:c.877+2T>C XP_011525818.1:n.877+2T>C
XM_011527517.1:c.988+2T>C XP_011525819.1:n.988+2T>C
XM_011527518.1:c.988+2T>C XP_011525820.1:n.988+2T>C
XM_017027483.1:c.712+2T>C XP_016882972.1:n.712+2T>C
XM_024451782.1:c.1027+2T>C XP_024307550.1:n.1027+2T>C
XM_024451783.1:c.988+2T>C XP_024307551.1:n.988+2T>C