Canonical Allele Identifier: CA2275552575
Gene: TSEN54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75524348A= , CM000679.2:g.75524348A= GRCh38
NC_000017.10:g.73520429A= , CM000679.1:g.73520429A= GRCh37
NC_000017.9:g.71032024A= NCBI36
NG_013041.1:g.12821A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.1517A= MANE Select ENSP00000327487.6:p.Asp506=
ENST00000434205.8:c.1214A= ENSP00000406559.4:p.Asp405=
ENST00000545228.3:c.*16A= ENSP00000438169.3:n.*16A=
ENST00000577197.2:n.715A=
ENST00000579449.2:n.2257A=
ENST00000580013.6:n.2661A=
ENST00000679370.1:n.3039A=
ENST00000679429.1:c.*975A= ENSP00000505403.1:n.*975A=
ENST00000679443.1:n.1586A=
ENST00000679782.1:c.*216A= ENSP00000505995.1:n.*216A=
ENST00000679919.1:n.1788A=
ENST00000679928.1:c.*2069A= ENSP00000506071.1:n.*2069A=
ENST00000680528.1:n.2483A=
ENST00000680999.1:c.1730A= ENSP00000504984.1:p.Asp577=
ENST00000681282.1:c.*1704A= ENSP00000506339.1:n.*1704A=
ENST00000333213.10:c.1517A= ENSP00000327487.6:p.Asp506=
ENST00000545228.2:c.794A=
ENST00000577197.1:n.265A=
ENST00000579449.1:n.714A=
NM_207346.2:c.1517A= NP_997229.2:p.Asp506=
XM_005257229.2:c.*16A= XP_005257286.1:n.*16A=
XM_006721821.2:c.*16A= XP_006721884.1:n.*16A=
XM_011524616.1:c.*16A= XP_011522918.1:n.*16A=
XM_011524617.1:c.*99A= XP_011522919.1:n.*99A=
XM_011524618.1:c.1400A= XP_011522920.1:p.Asp467=
XR_243646.2:n.1749A=
XM_005257229.4:c.*16A= XP_005257286.1:n.*16A=
XR_001753015.1:n.50T=
XR_001753016.1:n.51T=
XR_243646.4:n.1755A=
NM_207346.3:c.1517A= MANE Select NP_997229.2:p.Asp506=