Canonical Allele Identifier: CA502045906

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73517840G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521759G>T , CM000679.2:g.75521759G>T	GRCh38
NC_000017.10:g.73517840G>T , CM000679.1:g.73517840G>T	GRCh37
NC_000017.9:g.71029435G>T	NCBI36
NG_013041.1:g.10232G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.678G>T MANE Select	ENSP00000327487.6:p.Leu226=
ENST00000434205.8:c.375G>T	ENSP00000406559.4:p.Leu125=
ENST00000545228.3:c.678G>T	ENSP00000438169.3:p.Leu226=
ENST00000579449.2:n.477G>T
ENST00000580013.6:n.881G>T
ENST00000583818.2:c.732G>T	ENSP00000461928.2:n.732G>T
ENST00000679370.1:n.1259G>T
ENST00000679429.1:c.*136G>T	ENSP00000505403.1:n.*136G>T
ENST00000679443.1:n.747G>T
ENST00000679782.1:c.678G>T	ENSP00000505995.1:p.Leu226=
ENST00000679919.1:n.747G>T
ENST00000679928.1:c.*289G>T	ENSP00000506071.1:n.*289G>T
ENST00000680528.1:n.703G>T
ENST00000680999.1:c.678G>T	ENSP00000504984.1:p.Leu226=
ENST00000681282.1:c.707G>T	ENSP00000506339.1:p.Trp236Leu
ENST00000333213.10:c.678G>T	ENSP00000327487.6:p.Leu226=
ENST00000578415.1:c.638G>T
ENST00000583173.5:c.459-248G>T	ENSP00000463619.1:n.459-248G>T
ENST00000583818.1:c.627G>T	ENSP00000461928.1:n.627G>T
NM_207346.2:c.678G>T	NP_997229.2:p.Leu226=
XM_005257229.2:c.678G>T	XP_005257286.1:p.Leu226=
XM_006721821.2:c.375G>T	XP_006721884.1:p.Leu125=
XM_011524616.1:c.678G>T	XP_011522918.1:p.Leu226=
XM_011524617.1:c.678G>T	XP_011522919.1:p.Leu226=
XM_011524618.1:c.678G>T	XP_011522920.1:p.Leu226=
XR_243646.2:n.708G>T
XM_005257229.4:c.678G>T	XP_005257286.1:p.Leu226=
XR_243646.4:n.714G>T
NM_207346.3:c.678G>T MANE Select	NP_997229.2:p.Leu226=