Canonical Allele Identifier: CA2275552690
Gene: TSEN54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75524576C= , CM000679.2:g.75524576C= GRCh38
NC_000017.10:g.73520657C= , CM000679.1:g.73520657C= GRCh37
NC_000017.9:g.71032252C= NCBI36
NG_013041.1:g.13049C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.*164C= MANE Select ENSP00000327487.6:n.*164C=
ENST00000434205.8:c.*164C= ENSP00000406559.4:n.*164C=
ENST00000545228.3:c.*244C= ENSP00000438169.3:n.*244C=
ENST00000577197.2:n.943C=
ENST00000579449.2:n.2485C=
ENST00000580013.6:n.2889C=
ENST00000679370.1:n.3267C=
ENST00000679429.1:c.*1203C= ENSP00000505403.1:n.*1203C=
ENST00000679443.1:n.1814C=
ENST00000679782.1:c.*444C= ENSP00000505995.1:n.*444C=
ENST00000679919.1:n.2016C=
ENST00000679928.1:c.*2297C= ENSP00000506071.1:n.*2297C=
ENST00000680999.1:c.*164C= ENSP00000504984.1:n.*164C=
ENST00000681282.1:c.*1932C= ENSP00000506339.1:n.*1932C=
ENST00000333213.10:c.*164C= ENSP00000327487.6:n.*164C=
ENST00000545228.2:c.1022C=
ENST00000577197.1:n.493C=
NM_207346.2:c.*164C= NP_997229.2:n.*164C=
XM_005257229.2:c.*244C= XP_005257286.1:n.*244C=
XM_006721821.2:c.*244C= XP_006721884.1:n.*244C=
XM_011524616.1:c.*244C= XP_011522918.1:n.*244C=
XM_011524618.1:c.*164C= XP_011522920.1:n.*164C=
XR_243646.2:n.1977C=
XM_005257229.4:c.*244C= XP_005257286.1:n.*244C=
XR_243646.4:n.1983C=
NM_207346.3:c.*164C= MANE Select NP_997229.2:n.*164C=