Canonical Allele Identifier: CA502046128

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75521862-C-T
• MyVariant Identifiers: chr17:g.73517943C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521862C>T , CM000679.2:g.75521862C>T	GRCh38
NC_000017.10:g.73517943C>T , CM000679.1:g.73517943C>T	GRCh37
NC_000017.9:g.71029538C>T	NCBI36
NG_013041.1:g.10335C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.781C>T MANE Select	ENSP00000327487.6:p.Leu261=
ENST00000434205.8:c.478C>T	ENSP00000406559.4:p.Leu160=
ENST00000545228.3:c.781C>T	ENSP00000438169.3:p.Leu261=
ENST00000579449.2:n.580C>T
ENST00000580013.6:n.984C>T
ENST00000583818.2:c.835C>T	ENSP00000461928.2:n.835C>T
ENST00000679370.1:n.1362C>T
ENST00000679429.1:c.*239C>T	ENSP00000505403.1:n.*239C>T
ENST00000679443.1:n.850C>T
ENST00000679782.1:c.781C>T	ENSP00000505995.1:p.Leu261=
ENST00000679919.1:n.850C>T
ENST00000679928.1:c.*392C>T	ENSP00000506071.1:n.*392C>T
ENST00000680528.1:n.806C>T
ENST00000680999.1:c.781C>T	ENSP00000504984.1:p.Leu261=
ENST00000681282.1:c.*27C>T	ENSP00000506339.1:n.*27C>T
ENST00000333213.10:c.781C>T	ENSP00000327487.6:p.Leu261=
ENST00000578415.1:c.741C>T
ENST00000583173.5:c.459-145C>T	ENSP00000463619.1:n.459-145C>T
ENST00000583818.1:c.730C>T	ENSP00000461928.1:n.730C>T
NM_207346.2:c.781C>T	NP_997229.2:p.Leu261=
XM_005257229.2:c.781C>T	XP_005257286.1:p.Leu261=
XM_006721821.2:c.478C>T	XP_006721884.1:p.Leu160=
XM_011524616.1:c.781C>T	XP_011522918.1:p.Leu261=
XM_011524617.1:c.781C>T	XP_011522919.1:p.Leu261=
XM_011524618.1:c.781C>T	XP_011522920.1:p.Leu261=
XR_243646.2:n.811C>T
XM_005257229.4:c.781C>T	XP_005257286.1:p.Leu261=
XR_243646.4:n.817C>T
NM_207346.3:c.781C>T MANE Select	NP_997229.2:p.Leu261=