Canonical Allele Identifier: CA2639836766

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524687-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524687G>T , CM000679.2:g.75524687G>T	GRCh38
NC_000017.10:g.73520768G>T , CM000679.1:g.73520768G>T	GRCh37
NC_000017.9:g.71032363G>T	NCBI36
NG_013041.1:g.13160G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*275G>T MANE Select	ENSP00000327487.6:n.*275G>T
ENST00000434205.8:c.*275G>T	ENSP00000406559.4:n.*275G>T
ENST00000545228.3:c.*355G>T	ENSP00000438169.3:n.*355G>T
ENST00000577197.2:n.1054G>T
ENST00000579449.2:n.2596G>T
ENST00000580013.6:n.3000G>T
ENST00000679370.1:n.3378G>T
ENST00000679429.1:c.*1314G>T	ENSP00000505403.1:n.*1314G>T
ENST00000679443.1:n.1925G>T
ENST00000679782.1:c.*555G>T	ENSP00000505995.1:n.*555G>T
ENST00000679919.1:n.2127G>T
ENST00000679928.1:c.*2408G>T	ENSP00000506071.1:n.*2408G>T
ENST00000680999.1:c.*275G>T	ENSP00000504984.1:n.*275G>T
ENST00000681282.1:c.*2043G>T	ENSP00000506339.1:n.*2043G>T
ENST00000333213.10:c.*275G>T	ENSP00000327487.6:n.*275G>T
ENST00000545228.2:c.1133G>T
ENST00000577197.1:n.604G>T
NM_207346.2:c.*275G>T	NP_997229.2:n.*275G>T
XM_005257229.2:c.*355G>T	XP_005257286.1:n.*355G>T
XM_006721821.2:c.*355G>T	XP_006721884.1:n.*355G>T
XM_011524616.1:c.*355G>T	XP_011522918.1:n.*355G>T
XM_011524618.1:c.*275G>T	XP_011522920.1:n.*275G>T
XR_243646.2:n.2088G>T
XM_005257229.4:c.*355G>T	XP_005257286.1:n.*355G>T
XR_243646.4:n.2094G>T
NM_207346.3:c.*275G>T MANE Select	NP_997229.2:n.*275G>T