Canonical Allele Identifier: CA401028991
Gene: TSEN54 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75521862C>A , CM000679.2:g.75521862C>A GRCh38
NC_000017.10:g.73517943C>A , CM000679.1:g.73517943C>A GRCh37
NC_000017.9:g.71029538C>A NCBI36
NG_013041.1:g.10335C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.781C>A MANE Select ENSP00000327487.6:p.Leu261Met
ENST00000434205.8:c.478C>A ENSP00000406559.4:p.Leu160Met
ENST00000545228.3:c.781C>A ENSP00000438169.3:p.Leu261Met
ENST00000579449.2:n.580C>A
ENST00000580013.6:n.984C>A
ENST00000583818.2:c.835C>A ENSP00000461928.2:n.835C>A
ENST00000679370.1:n.1362C>A
ENST00000679429.1:c.*239C>A ENSP00000505403.1:n.*239C>A
ENST00000679443.1:n.850C>A
ENST00000679782.1:c.781C>A ENSP00000505995.1:p.Leu261Met
ENST00000679919.1:n.850C>A
ENST00000679928.1:c.*392C>A ENSP00000506071.1:n.*392C>A
ENST00000680528.1:n.806C>A
ENST00000680999.1:c.781C>A ENSP00000504984.1:p.Leu261Met
ENST00000681282.1:c.*27C>A ENSP00000506339.1:n.*27C>A
ENST00000333213.10:c.781C>A ENSP00000327487.6:p.Leu261Met
ENST00000578415.1:c.741C>A
ENST00000583173.5:c.459-145C>A ENSP00000463619.1:n.459-145C>A
ENST00000583818.1:c.730C>A ENSP00000461928.1:n.730C>A
NM_207346.2:c.781C>A NP_997229.2:p.Leu261Met
XM_005257229.2:c.781C>A XP_005257286.1:p.Leu261Met
XM_006721821.2:c.478C>A XP_006721884.1:p.Leu160Met
XM_011524616.1:c.781C>A XP_011522918.1:p.Leu261Met
XM_011524617.1:c.781C>A XP_011522919.1:p.Leu261Met
XM_011524618.1:c.781C>A XP_011522920.1:p.Leu261Met
XR_243646.2:n.811C>A
XM_005257229.4:c.781C>A XP_005257286.1:p.Leu261Met
XR_243646.4:n.817C>A
NM_207346.3:c.781C>A MANE Select NP_997229.2:p.Leu261Met