Canonical Allele Identifier: CA2639826768

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2705219
• ClinVar RCV Id: RCV003575307
• gnomAD v4: 17-75521521-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521521C>T , CM000679.2:g.75521521C>T	GRCh38
NC_000017.10:g.73517602C>T , CM000679.1:g.73517602C>T	GRCh37
NC_000017.9:g.71029197C>T	NCBI36
NG_013041.1:g.9994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.623+11C>T MANE Select	ENSP00000327487.6:n.623+11C>T
ENST00000434205.8:c.320+11C>T	ENSP00000406559.4:n.320+11C>T
ENST00000545228.3:c.623+11C>T	ENSP00000438169.3:n.623+11C>T
ENST00000579449.2:n.422+11C>T
ENST00000580013.6:n.643C>T
ENST00000583818.2:c.677+11C>T	ENSP00000461928.2:n.677+11C>T
ENST00000679370.1:n.1021C>T
ENST00000679429.1:c.*81+11C>T	ENSP00000505403.1:n.*81+11C>T
ENST00000679443.1:n.509C>T
ENST00000679782.1:c.623+11C>T	ENSP00000505995.1:n.623+11C>T
ENST00000679919.1:n.509C>T
ENST00000679928.1:c.*234+11C>T	ENSP00000506071.1:n.*234+11C>T
ENST00000680528.1:n.648+11C>T
ENST00000680999.1:c.623+11C>T	ENSP00000504984.1:n.623+11C>T
ENST00000681282.1:c.623+11C>T	ENSP00000506339.1:n.623+11C>T
ENST00000333213.10:c.623+11C>T	ENSP00000327487.6:n.623+11C>T
ENST00000578415.1:c.583+11C>T
ENST00000583173.5:c.458+11C>T	ENSP00000463619.1:n.458+11C>T
ENST00000583818.1:c.572+11C>T	ENSP00000461928.1:n.572+11C>T
NM_207346.2:c.623+11C>T	NP_997229.2:n.623+11C>T
XM_005257229.2:c.623+11C>T	XP_005257286.1:n.623+11C>T
XM_006721821.2:c.320+11C>T	XP_006721884.1:n.320+11C>T
XM_011524616.1:c.623+11C>T	XP_011522918.1:n.623+11C>T
XM_011524617.1:c.623+11C>T	XP_011522919.1:n.623+11C>T
XM_011524618.1:c.623+11C>T	XP_011522920.1:n.623+11C>T
XR_243646.2:n.653+11C>T
XM_005257229.4:c.623+11C>T	XP_005257286.1:n.623+11C>T
XR_243646.4:n.659+11C>T
NM_207346.3:c.623+11C>T MANE Select	NP_997229.2:n.623+11C>T