Canonical Allele Identifier: CA2639835732

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2870026
• ClinVar RCV Id: RCV003701004
• gnomAD v4: 17-75524254-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524254C>T , CM000679.2:g.75524254C>T	GRCh38
NC_000017.10:g.73520335C>T , CM000679.1:g.73520335C>T	GRCh37
NC_000017.9:g.71031930C>T	NCBI36
NG_013041.1:g.12727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1431-8C>T MANE Select	ENSP00000327487.6:n.1431-8C>T
ENST00000434205.8:c.1128-8C>T	ENSP00000406559.4:n.1128-8C>T
ENST00000545228.3:c.1619-8C>T	ENSP00000438169.3:n.1619-8C>T
ENST00000577197.2:n.629-8C>T
ENST00000579449.2:n.2171-8C>T
ENST00000580013.6:n.2575-8C>T
ENST00000679370.1:n.2953-8C>T
ENST00000679429.1:c.*889-8C>T	ENSP00000505403.1:n.*889-8C>T
ENST00000679443.1:n.1500-8C>T
ENST00000679782.1:c.*130-8C>T	ENSP00000505995.1:n.*130-8C>T
ENST00000679919.1:n.1702-8C>T
ENST00000679928.1:c.*1983-8C>T	ENSP00000506071.1:n.*1983-8C>T
ENST00000680528.1:n.2397-8C>T
ENST00000680999.1:c.1644-8C>T	ENSP00000504984.1:n.1644-8C>T
ENST00000681282.1:c.*1618-8C>T	ENSP00000506339.1:n.*1618-8C>T
ENST00000333213.10:c.1431-8C>T	ENSP00000327487.6:n.1431-8C>T
ENST00000545228.2:c.708-8C>T
ENST00000577197.1:n.179-8C>T
ENST00000579449.1:n.628-8C>T
NM_207346.2:c.1431-8C>T	NP_997229.2:n.1431-8C>T
XM_005257229.2:c.1619-8C>T	XP_005257286.1:n.1619-8C>T
XM_006721821.2:c.1316-8C>T	XP_006721884.1:n.1316-8C>T
XM_011524616.1:c.1502-8C>T	XP_011522918.1:n.1502-8C>T
XM_011524617.1:c.*13-8C>T	XP_011522919.1:n.*13-8C>T
XM_011524618.1:c.1314-8C>T	XP_011522920.1:n.1314-8C>T
XR_243646.2:n.1663-8C>T
XM_005257229.4:c.1619-8C>T	XP_005257286.1:n.1619-8C>T
XR_001753015.1:n.87+57G>A
XR_001753016.1:n.88+57G>A
XR_243646.4:n.1669-8C>T
NM_207346.3:c.1431-8C>T MANE Select	NP_997229.2:n.1431-8C>T