Canonical Allele Identifier: CA2639835489

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75523923-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75523923G>T , CM000679.2:g.75523923G>T	GRCh38
NC_000017.10:g.73520004G>T , CM000679.1:g.73520004G>T	GRCh37
NC_000017.9:g.71031599G>T	NCBI36
NG_013041.1:g.12396G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1430+144G>T MANE Select	ENSP00000327487.6:n.1430+144G>T
ENST00000434205.8:c.1127+144G>T	ENSP00000406559.4:n.1127+144G>T
ENST00000545228.3:c.1618+144G>T	ENSP00000438169.3:n.1618+144G>T
ENST00000577197.2:n.628+144G>T
ENST00000579449.2:n.2170+144G>T
ENST00000580013.6:n.2574+144G>T
ENST00000679370.1:n.2952+144G>T
ENST00000679429.1:c.*888+144G>T	ENSP00000505403.1:n.*888+144G>T
ENST00000679443.1:n.1499+144G>T
ENST00000679782.1:c.*129+144G>T	ENSP00000505995.1:n.*129+144G>T
ENST00000679919.1:n.1701+144G>T
ENST00000679928.1:c.*1982+144G>T	ENSP00000506071.1:n.*1982+144G>T
ENST00000680528.1:n.2396+144G>T
ENST00000680999.1:c.1643+144G>T	ENSP00000504984.1:n.1643+144G>T
ENST00000681282.1:c.*1617+144G>T	ENSP00000506339.1:n.*1617+144G>T
ENST00000333213.10:c.1430+144G>T	ENSP00000327487.6:n.1430+144G>T
ENST00000545228.2:c.707+144G>T
ENST00000577197.1:n.178+144G>T
ENST00000579449.1:n.627+144G>T
NM_207346.2:c.1430+144G>T	NP_997229.2:n.1430+144G>T
XM_005257229.2:c.1618+144G>T	XP_005257286.1:n.1618+144G>T
XM_006721821.2:c.1315+144G>T	XP_006721884.1:n.1315+144G>T
XM_011524616.1:c.1502-339G>T	XP_011522918.1:n.1502-339G>T
XM_011524617.1:c.*13-339G>T	XP_011522919.1:n.*13-339G>T
XM_011524618.1:c.1314-339G>T	XP_011522920.1:n.1314-339G>T
XR_243646.2:n.1662+144G>T
XM_005257229.4:c.1618+144G>T	XP_005257286.1:n.1618+144G>T
XR_001753015.1:n.87+388C>A
XR_001753016.1:n.88+388C>A
XR_243646.4:n.1668+144G>T
NM_207346.3:c.1430+144G>T MANE Select	NP_997229.2:n.1430+144G>T