Canonical Allele Identifier: CA2275548475
Gene: TSEN54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516815C= , CM000679.2:g.75516815C= GRCh38
NC_000017.10:g.73512896C= , CM000679.1:g.73512896C= GRCh37
NC_000017.9:g.71024491C= NCBI36
NG_013041.1:g.5288C=
NG_033152.1:g.3769G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.126C= MANE Select ENSP00000327487.6:p.Asp42=
ENST00000434205.8:c.-82-194C= ENSP00000406559.4:n.-82-194C=
ENST00000545228.3:c.126C= ENSP00000438169.3:p.Asp42=
ENST00000579449.2:n.21-194C=
ENST00000580013.6:n.135C=
ENST00000583818.2:c.126C= ENSP00000461928.2:p.Asp42=
ENST00000679370.1:n.513C=
ENST00000679429.1:c.126C= ENSP00000505403.1:p.Asp42=
ENST00000679443.1:n.1C=
ENST00000679782.1:c.126C= ENSP00000505995.1:p.Asp42=
ENST00000679919.1:n.1C=
ENST00000679928.1:c.126C= ENSP00000506071.1:p.Asp42=
ENST00000680528.1:n.151C=
ENST00000680999.1:c.126C= ENSP00000504984.1:p.Asp42=
ENST00000681282.1:c.126C= ENSP00000506339.1:p.Asp42=
ENST00000333213.10:c.126C= ENSP00000327487.6:p.Asp42=
ENST00000434205.7:c.-82-194C= ENSP00000406559.3:n.-82-194C=
ENST00000578415.1:c.4C=
ENST00000580013.5:n.151C=
ENST00000583173.5:c.57-194C= ENSP00000463619.1:n.57-194C=
ENST00000583454.1:n.161C=
ENST00000583818.1:c.21C= ENSP00000461928.1:p.Asp7=
NM_207346.2:c.126C= NP_997229.2:p.Asp42=
XM_005257229.2:c.126C= XP_005257286.1:p.Asp42=
XM_006721821.2:c.-178C= XP_006721884.1:n.-178C=
XM_011524616.1:c.126C= XP_011522918.1:p.Asp42=
XM_011524617.1:c.126C= XP_011522919.1:p.Asp42=
XM_011524618.1:c.126C= XP_011522920.1:p.Asp42=
XR_243646.2:n.156C=
XM_005257229.4:c.126C= XP_005257286.1:p.Asp42=
XR_243646.4:n.162C=
NM_207346.3:c.126C= MANE Select NP_997229.2:p.Asp42=