Canonical Allele Identifier: CA2275551006
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs2053425260

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75521366G>T , CM000679.2:g.75521366G>T GRCh38
NC_000017.10:g.73517447G>T , CM000679.1:g.73517447G>T GRCh37
NC_000017.9:g.71029042G>T NCBI36
NG_013041.1:g.9839G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.522-43G>T MANE Select ENSP00000327487.6:n.522-43G>T
ENST00000434205.8:c.219-43G>T ENSP00000406559.4:n.219-43G>T
ENST00000545228.3:c.522-43G>T ENSP00000438169.3:n.522-43G>T
ENST00000579449.2:n.321-43G>T
ENST00000580013.6:n.531-43G>T
ENST00000583818.2:c.533G>T ENSP00000461928.2:p.Ter178Leu
ENST00000679370.1:n.909-43G>T
ENST00000679429.1:c.514-43G>T ENSP00000505403.1:n.514-43G>T
ENST00000679443.1:n.397-43G>T
ENST00000679782.1:c.522-43G>T ENSP00000505995.1:n.522-43G>T
ENST00000679919.1:n.397-43G>T
ENST00000679928.1:c.*133-43G>T ENSP00000506071.1:n.*133-43G>T
ENST00000680528.1:n.547-43G>T
ENST00000680999.1:c.522-43G>T ENSP00000504984.1:n.522-43G>T
ENST00000681282.1:c.522-43G>T ENSP00000506339.1:n.522-43G>T
ENST00000333213.10:c.522-43G>T ENSP00000327487.6:n.522-43G>T
ENST00000578415.1:c.482-43G>T
ENST00000580013.5:n.539-43G>T
ENST00000583173.5:c.357-43G>T ENSP00000463619.1:n.357-43G>T
ENST00000583818.1:c.428G>T ENSP00000461928.1:p.Ter143Leu
NM_207346.2:c.522-43G>T NP_997229.2:n.522-43G>T
XM_005257229.2:c.522-43G>T XP_005257286.1:n.522-43G>T
XM_006721821.2:c.219-43G>T XP_006721884.1:n.219-43G>T
XM_011524616.1:c.522-43G>T XP_011522918.1:n.522-43G>T
XM_011524617.1:c.522-43G>T XP_011522919.1:n.522-43G>T
XM_011524618.1:c.522-43G>T XP_011522920.1:n.522-43G>T
XR_243646.2:n.552-43G>T
XM_005257229.4:c.522-43G>T XP_005257286.1:n.522-43G>T
XR_243646.4:n.558-43G>T
NM_207346.3:c.522-43G>T MANE Select NP_997229.2:n.522-43G>T