Canonical Allele Identifier: CA2275552530
Gene: TSEN54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75524256C= , CM000679.2:g.75524256C= GRCh38
NC_000017.10:g.73520337C= , CM000679.1:g.73520337C= GRCh37
NC_000017.9:g.71031932C= NCBI36
NG_013041.1:g.12729C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.1431-6C= MANE Select ENSP00000327487.6:n.1431-6C=
ENST00000434205.8:c.1128-6C= ENSP00000406559.4:n.1128-6C=
ENST00000545228.3:c.1619-6C= ENSP00000438169.3:n.1619-6C=
ENST00000577197.2:n.629-6C=
ENST00000579449.2:n.2171-6C=
ENST00000580013.6:n.2575-6C=
ENST00000679370.1:n.2953-6C=
ENST00000679429.1:c.*889-6C= ENSP00000505403.1:n.*889-6C=
ENST00000679443.1:n.1500-6C=
ENST00000679782.1:c.*130-6C= ENSP00000505995.1:n.*130-6C=
ENST00000679919.1:n.1702-6C=
ENST00000679928.1:c.*1983-6C= ENSP00000506071.1:n.*1983-6C=
ENST00000680528.1:n.2397-6C=
ENST00000680999.1:c.1644-6C= ENSP00000504984.1:n.1644-6C=
ENST00000681282.1:c.*1618-6C= ENSP00000506339.1:n.*1618-6C=
ENST00000333213.10:c.1431-6C= ENSP00000327487.6:n.1431-6C=
ENST00000545228.2:c.708-6C=
ENST00000577197.1:n.179-6C=
ENST00000579449.1:n.628-6C=
NM_207346.2:c.1431-6C= NP_997229.2:n.1431-6C=
XM_005257229.2:c.1619-6C= XP_005257286.1:n.1619-6C=
XM_006721821.2:c.1316-6C= XP_006721884.1:n.1316-6C=
XM_011524616.1:c.1502-6C= XP_011522918.1:n.1502-6C=
XM_011524617.1:c.*13-6C= XP_011522919.1:n.*13-6C=
XM_011524618.1:c.1314-6C= XP_011522920.1:n.1314-6C=
XR_243646.2:n.1663-6C=
XM_005257229.4:c.1619-6C= XP_005257286.1:n.1619-6C=
XR_001753015.1:n.87+55G=
XR_001753016.1:n.88+55G=
XR_243646.4:n.1669-6C=
NM_207346.3:c.1431-6C= MANE Select NP_997229.2:n.1431-6C=