Canonical Allele Identifier: CA2639836635

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524645-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524645G>T , CM000679.2:g.75524645G>T	GRCh38
NC_000017.10:g.73520726G>T , CM000679.1:g.73520726G>T	GRCh37
NC_000017.9:g.71032321G>T	NCBI36
NG_013041.1:g.13118G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*233G>T MANE Select	ENSP00000327487.6:n.*233G>T
ENST00000434205.8:c.*233G>T	ENSP00000406559.4:n.*233G>T
ENST00000545228.3:c.*313G>T	ENSP00000438169.3:n.*313G>T
ENST00000577197.2:n.1012G>T
ENST00000579449.2:n.2554G>T
ENST00000580013.6:n.2958G>T
ENST00000679370.1:n.3336G>T
ENST00000679429.1:c.*1272G>T	ENSP00000505403.1:n.*1272G>T
ENST00000679443.1:n.1883G>T
ENST00000679782.1:c.*513G>T	ENSP00000505995.1:n.*513G>T
ENST00000679919.1:n.2085G>T
ENST00000679928.1:c.*2366G>T	ENSP00000506071.1:n.*2366G>T
ENST00000680999.1:c.*233G>T	ENSP00000504984.1:n.*233G>T
ENST00000681282.1:c.*2001G>T	ENSP00000506339.1:n.*2001G>T
ENST00000333213.10:c.*233G>T	ENSP00000327487.6:n.*233G>T
ENST00000545228.2:c.1091G>T
ENST00000577197.1:n.562G>T
NM_207346.2:c.*233G>T	NP_997229.2:n.*233G>T
XM_005257229.2:c.*313G>T	XP_005257286.1:n.*313G>T
XM_006721821.2:c.*313G>T	XP_006721884.1:n.*313G>T
XM_011524616.1:c.*313G>T	XP_011522918.1:n.*313G>T
XM_011524618.1:c.*233G>T	XP_011522920.1:n.*233G>T
XR_243646.2:n.2046G>T
XM_005257229.4:c.*313G>T	XP_005257286.1:n.*313G>T
XR_243646.4:n.2052G>T
NM_207346.3:c.*233G>T MANE Select	NP_997229.2:n.*233G>T