Canonical Allele Identifier: CA2639835444

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75523910-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75523910G>T , CM000679.2:g.75523910G>T	GRCh38
NC_000017.10:g.73519991G>T , CM000679.1:g.73519991G>T	GRCh37
NC_000017.9:g.71031586G>T	NCBI36
NG_013041.1:g.12383G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1430+131G>T MANE Select	ENSP00000327487.6:n.1430+131G>T
ENST00000434205.8:c.1127+131G>T	ENSP00000406559.4:n.1127+131G>T
ENST00000545228.3:c.1618+131G>T	ENSP00000438169.3:n.1618+131G>T
ENST00000577197.2:n.628+131G>T
ENST00000579449.2:n.2170+131G>T
ENST00000580013.6:n.2574+131G>T
ENST00000679370.1:n.2952+131G>T
ENST00000679429.1:c.*888+131G>T	ENSP00000505403.1:n.*888+131G>T
ENST00000679443.1:n.1499+131G>T
ENST00000679782.1:c.*129+131G>T	ENSP00000505995.1:n.*129+131G>T
ENST00000679919.1:n.1701+131G>T
ENST00000679928.1:c.*1982+131G>T	ENSP00000506071.1:n.*1982+131G>T
ENST00000680528.1:n.2396+131G>T
ENST00000680999.1:c.1643+131G>T	ENSP00000504984.1:n.1643+131G>T
ENST00000681282.1:c.*1617+131G>T	ENSP00000506339.1:n.*1617+131G>T
ENST00000333213.10:c.1430+131G>T	ENSP00000327487.6:n.1430+131G>T
ENST00000545228.2:c.707+131G>T
ENST00000577197.1:n.178+131G>T
ENST00000579449.1:n.627+131G>T
NM_207346.2:c.1430+131G>T	NP_997229.2:n.1430+131G>T
XM_005257229.2:c.1618+131G>T	XP_005257286.1:n.1618+131G>T
XM_006721821.2:c.1315+131G>T	XP_006721884.1:n.1315+131G>T
XM_011524616.1:c.1502-352G>T	XP_011522918.1:n.1502-352G>T
XM_011524617.1:c.*13-352G>T	XP_011522919.1:n.*13-352G>T
XM_011524618.1:c.1314-352G>T	XP_011522920.1:n.1314-352G>T
XR_243646.2:n.1662+131G>T
XM_005257229.4:c.1618+131G>T	XP_005257286.1:n.1618+131G>T
XR_001753015.1:n.87+401C>A
XR_001753016.1:n.88+401C>A
XR_243646.4:n.1668+131G>T
NM_207346.3:c.1430+131G>T MANE Select	NP_997229.2:n.1430+131G>T