Canonical Allele Identifier: CA2275548349
Gene: TSEN54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516608C= , CM000679.2:g.75516608C= GRCh38
NC_000017.10:g.73512689C= , CM000679.1:g.73512689C= GRCh37
NC_000017.9:g.71024284C= NCBI36
NG_013041.1:g.5081C=
NG_033152.1:g.3976G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.48C= MANE Select ENSP00000327487.6:p.Arg16=
ENST00000434205.8:c.-83+222C= ENSP00000406559.4:n.-83+222C=
ENST00000545228.3:c.48C= ENSP00000438169.3:p.Arg16=
ENST00000579449.2:n.12C=
ENST00000580013.6:n.57C=
ENST00000583818.2:c.48C= ENSP00000461928.2:p.Arg16=
ENST00000679370.1:n.444-138C=
ENST00000679429.1:c.48C= ENSP00000505403.1:p.Arg16=
ENST00000679782.1:c.48C= ENSP00000505995.1:p.Arg16=
ENST00000679928.1:c.48C= ENSP00000506071.1:p.Arg16=
ENST00000680528.1:n.73C=
ENST00000680999.1:c.48C= ENSP00000504984.1:p.Arg16=
ENST00000681282.1:c.48C= ENSP00000506339.1:p.Arg16=
ENST00000333213.10:c.48C= ENSP00000327487.6:p.Arg16=
ENST00000434205.7:c.-83+222C= ENSP00000406559.3:n.-83+222C=
ENST00000580013.5:n.73C=
ENST00000583173.5:c.48C= ENSP00000463619.1:p.Arg16=
ENST00000583454.1:n.83C=
NM_207346.2:c.48C= NP_997229.2:p.Arg16=
XM_005257229.2:c.48C= XP_005257286.1:p.Arg16=
XM_006721821.2:c.-247-138C= XP_006721884.1:n.-247-138C=
XM_011524616.1:c.48C= XP_011522918.1:p.Arg16=
XM_011524617.1:c.48C= XP_011522919.1:p.Arg16=
XM_011524618.1:c.48C= XP_011522920.1:p.Arg16=
XR_243646.2:n.78C=
XM_005257229.4:c.48C= XP_005257286.1:p.Arg16=
XR_243646.4:n.84C=
NM_207346.3:c.48C= MANE Select NP_997229.2:p.Arg16=