Canonical Allele Identifier: CA2639836537

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524602-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524602G>T , CM000679.2:g.75524602G>T	GRCh38
NC_000017.10:g.73520683G>T , CM000679.1:g.73520683G>T	GRCh37
NC_000017.9:g.71032278G>T	NCBI36
NG_013041.1:g.13075G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*190G>T MANE Select	ENSP00000327487.6:n.*190G>T
ENST00000434205.8:c.*190G>T	ENSP00000406559.4:n.*190G>T
ENST00000545228.3:c.*270G>T	ENSP00000438169.3:n.*270G>T
ENST00000577197.2:n.969G>T
ENST00000579449.2:n.2511G>T
ENST00000580013.6:n.2915G>T
ENST00000679370.1:n.3293G>T
ENST00000679429.1:c.*1229G>T	ENSP00000505403.1:n.*1229G>T
ENST00000679443.1:n.1840G>T
ENST00000679782.1:c.*470G>T	ENSP00000505995.1:n.*470G>T
ENST00000679919.1:n.2042G>T
ENST00000679928.1:c.*2323G>T	ENSP00000506071.1:n.*2323G>T
ENST00000680999.1:c.*190G>T	ENSP00000504984.1:n.*190G>T
ENST00000681282.1:c.*1958G>T	ENSP00000506339.1:n.*1958G>T
ENST00000333213.10:c.*190G>T	ENSP00000327487.6:n.*190G>T
ENST00000545228.2:c.1048G>T
ENST00000577197.1:n.519G>T
NM_207346.2:c.*190G>T	NP_997229.2:n.*190G>T
XM_005257229.2:c.*270G>T	XP_005257286.1:n.*270G>T
XM_006721821.2:c.*270G>T	XP_006721884.1:n.*270G>T
XM_011524616.1:c.*270G>T	XP_011522918.1:n.*270G>T
XM_011524618.1:c.*190G>T	XP_011522920.1:n.*190G>T
XR_243646.2:n.2003G>T
XM_005257229.4:c.*270G>T	XP_005257286.1:n.*270G>T
XR_243646.4:n.2009G>T
NM_207346.3:c.*190G>T MANE Select	NP_997229.2:n.*190G>T