Canonical Allele Identifier: CA401029485
Gene: TSEN54 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75522013G>T , CM000679.2:g.75522013G>T GRCh38
NC_000017.10:g.73518094G>T , CM000679.1:g.73518094G>T GRCh37
NC_000017.9:g.71029689G>T NCBI36
NG_013041.1:g.10486G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000333213.11:c.932G>T MANE Select ENSP00000327487.6:p.Arg311Leu
ENST00000434205.8:c.629G>T ENSP00000406559.4:p.Arg210Leu
ENST00000545228.3:c.932G>T ENSP00000438169.3:p.Arg311Leu
ENST00000579449.2:n.731G>T
ENST00000580013.6:n.1135G>T
ENST00000679370.1:n.1513G>T
ENST00000679429.1:c.*390G>T ENSP00000505403.1:n.*390G>T
ENST00000679443.1:n.1001G>T
ENST00000679782.1:c.932G>T ENSP00000505995.1:p.Arg311Leu
ENST00000679919.1:n.1001G>T
ENST00000679928.1:c.*543G>T ENSP00000506071.1:n.*543G>T
ENST00000680528.1:n.957G>T
ENST00000680999.1:c.932G>T ENSP00000504984.1:p.Arg311Leu
ENST00000681282.1:c.*178G>T ENSP00000506339.1:n.*178G>T
ENST00000333213.10:c.932G>T ENSP00000327487.6:p.Arg311Leu
ENST00000545228.2:c.21G>T
ENST00000578415.1:c.892G>T
ENST00000583173.5:c.465G>T ENSP00000463619.1:p.Pro155=
NM_207346.2:c.932G>T NP_997229.2:p.Arg311Leu
XM_005257229.2:c.932G>T XP_005257286.1:p.Arg311Leu
XM_006721821.2:c.629G>T XP_006721884.1:p.Arg210Leu
XM_011524616.1:c.932G>T XP_011522918.1:p.Arg311Leu
XM_011524617.1:c.932G>T XP_011522919.1:p.Arg311Leu
XM_011524618.1:c.932G>T XP_011522920.1:p.Arg311Leu
XR_243646.2:n.962G>T
XM_005257229.4:c.932G>T XP_005257286.1:p.Arg311Leu
XR_243646.4:n.968G>T
NM_207346.3:c.932G>T MANE Select NP_997229.2:p.Arg311Leu