Canonical Allele Identifier: CA2275552383
Gene: TSEN54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75523917A= , CM000679.2:g.75523917A= GRCh38
NC_000017.10:g.73519998A= , CM000679.1:g.73519998A= GRCh37
NC_000017.9:g.71031593A= NCBI36
NG_013041.1:g.12390A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.1430+138A= MANE Select ENSP00000327487.6:n.1430+138A=
ENST00000434205.8:c.1127+138A= ENSP00000406559.4:n.1127+138A=
ENST00000545228.3:c.1618+138A= ENSP00000438169.3:n.1618+138A=
ENST00000577197.2:n.628+138A=
ENST00000579449.2:n.2170+138A=
ENST00000580013.6:n.2574+138A=
ENST00000679370.1:n.2952+138A=
ENST00000679429.1:c.*888+138A= ENSP00000505403.1:n.*888+138A=
ENST00000679443.1:n.1499+138A=
ENST00000679782.1:c.*129+138A= ENSP00000505995.1:n.*129+138A=
ENST00000679919.1:n.1701+138A=
ENST00000679928.1:c.*1982+138A= ENSP00000506071.1:n.*1982+138A=
ENST00000680528.1:n.2396+138A=
ENST00000680999.1:c.1643+138A= ENSP00000504984.1:n.1643+138A=
ENST00000681282.1:c.*1617+138A= ENSP00000506339.1:n.*1617+138A=
ENST00000333213.10:c.1430+138A= ENSP00000327487.6:n.1430+138A=
ENST00000545228.2:c.707+138A=
ENST00000577197.1:n.178+138A=
ENST00000579449.1:n.627+138A=
NM_207346.2:c.1430+138A= NP_997229.2:n.1430+138A=
XM_005257229.2:c.1618+138A= XP_005257286.1:n.1618+138A=
XM_006721821.2:c.1315+138A= XP_006721884.1:n.1315+138A=
XM_011524616.1:c.1502-345A= XP_011522918.1:n.1502-345A=
XM_011524617.1:c.*13-345A= XP_011522919.1:n.*13-345A=
XM_011524618.1:c.1314-345A= XP_011522920.1:n.1314-345A=
XR_243646.2:n.1662+138A=
XM_005257229.4:c.1618+138A= XP_005257286.1:n.1618+138A=
XR_001753015.1:n.87+394T=
XR_001753016.1:n.88+394T=
XR_243646.4:n.1668+138A=
NM_207346.3:c.1430+138A= MANE Select NP_997229.2:n.1430+138A=