Canonical Allele Identifier: CA2275552536
Gene: TSEN54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75524267A= , CM000679.2:g.75524267A= GRCh38
NC_000017.10:g.73520348A= , CM000679.1:g.73520348A= GRCh37
NC_000017.9:g.71031943A= NCBI36
NG_013041.1:g.12740A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.1436A= MANE Select ENSP00000327487.6:p.Asp479=
ENST00000434205.8:c.1133A= ENSP00000406559.4:p.Asp378=
ENST00000545228.3:c.1624A= ENSP00000438169.3:p.Met542=
ENST00000577197.2:n.634A=
ENST00000579449.2:n.2176A=
ENST00000580013.6:n.2580A=
ENST00000679370.1:n.2958A=
ENST00000679429.1:c.*894A= ENSP00000505403.1:n.*894A=
ENST00000679443.1:n.1505A=
ENST00000679782.1:c.*135A= ENSP00000505995.1:n.*135A=
ENST00000679919.1:n.1707A=
ENST00000679928.1:c.*1988A= ENSP00000506071.1:n.*1988A=
ENST00000680528.1:n.2402A=
ENST00000680999.1:c.1649A= ENSP00000504984.1:p.Asp550=
ENST00000681282.1:c.*1623A= ENSP00000506339.1:n.*1623A=
ENST00000333213.10:c.1436A= ENSP00000327487.6:p.Asp479=
ENST00000545228.2:c.713A=
ENST00000577197.1:n.184A=
ENST00000579449.1:n.633A=
NM_207346.2:c.1436A= NP_997229.2:p.Asp479=
XM_005257229.2:c.1624A= XP_005257286.1:p.Met542=
XM_006721821.2:c.1321A= XP_006721884.1:p.Met441=
XM_011524616.1:c.1507A= XP_011522918.1:p.Met503=
XM_011524617.1:c.*18A= XP_011522919.1:n.*18A=
XM_011524618.1:c.1319A= XP_011522920.1:p.Asp440=
XR_243646.2:n.1668A=
XM_005257229.4:c.1624A= XP_005257286.1:p.Met542=
XR_001753015.1:n.87+44T=
XR_001753016.1:n.88+44T=
XR_243646.4:n.1674A=
NM_207346.3:c.1436A= MANE Select NP_997229.2:p.Asp479=