Canonical Allele Identifier: CA2275552413
Gene: TSEN54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75523979G= , CM000679.2:g.75523979G= GRCh38
NC_000017.10:g.73520060G= , CM000679.1:g.73520060G= GRCh37
NC_000017.9:g.71031655G= NCBI36
NG_013041.1:g.12452G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.1430+200G= MANE Select ENSP00000327487.6:n.1430+200G=
ENST00000434205.8:c.1127+200G= ENSP00000406559.4:n.1127+200G=
ENST00000545228.3:c.1618+200G= ENSP00000438169.3:n.1618+200G=
ENST00000577197.2:n.628+200G=
ENST00000579449.2:n.2170+200G=
ENST00000580013.6:n.2574+200G=
ENST00000679370.1:n.2952+200G=
ENST00000679429.1:c.*888+200G= ENSP00000505403.1:n.*888+200G=
ENST00000679443.1:n.1499+200G=
ENST00000679782.1:c.*129+200G= ENSP00000505995.1:n.*129+200G=
ENST00000679919.1:n.1701+200G=
ENST00000679928.1:c.*1982+200G= ENSP00000506071.1:n.*1982+200G=
ENST00000680528.1:n.2396+200G=
ENST00000680999.1:c.1643+200G= ENSP00000504984.1:n.1643+200G=
ENST00000681282.1:c.*1617+200G= ENSP00000506339.1:n.*1617+200G=
ENST00000333213.10:c.1430+200G= ENSP00000327487.6:n.1430+200G=
ENST00000545228.2:c.707+200G=
ENST00000577197.1:n.178+200G=
ENST00000579449.1:n.627+200G=
NM_207346.2:c.1430+200G= NP_997229.2:n.1430+200G=
XM_005257229.2:c.1618+200G= XP_005257286.1:n.1618+200G=
XM_006721821.2:c.1315+200G= XP_006721884.1:n.1315+200G=
XM_011524616.1:c.1502-283G= XP_011522918.1:n.1502-283G=
XM_011524617.1:c.*13-283G= XP_011522919.1:n.*13-283G=
XM_011524618.1:c.1314-283G= XP_011522920.1:n.1314-283G=
XR_243646.2:n.1662+200G=
XM_005257229.4:c.1618+200G= XP_005257286.1:n.1618+200G=
XR_001753015.1:n.87+332C=
XR_001753016.1:n.88+332C=
XR_243646.4:n.1668+200G=
NM_207346.3:c.1430+200G= MANE Select NP_997229.2:n.1430+200G=