Canonical Allele Identifier: CA401031053

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520352G>T (hg19) ; chr17:g.75524271G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524271G>T , CM000679.2:g.75524271G>T	GRCh38
NC_000017.10:g.73520352G>T , CM000679.1:g.73520352G>T	GRCh37
NC_000017.9:g.71031947G>T	NCBI36
NG_013041.1:g.12744G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1440G>T MANE Select	ENSP00000327487.6:p.Glu480Asp
ENST00000434205.8:c.1137G>T	ENSP00000406559.4:p.Glu379Asp
ENST00000545228.3:c.1628G>T	ENSP00000438169.3:p.Ser543Ile
ENST00000577197.2:n.638G>T
ENST00000579449.2:n.2180G>T
ENST00000580013.6:n.2584G>T
ENST00000679370.1:n.2962G>T
ENST00000679429.1:c.*898G>T	ENSP00000505403.1:n.*898G>T
ENST00000679443.1:n.1509G>T
ENST00000679782.1:c.*139G>T	ENSP00000505995.1:n.*139G>T
ENST00000679919.1:n.1711G>T
ENST00000679928.1:c.*1992G>T	ENSP00000506071.1:n.*1992G>T
ENST00000680528.1:n.2406G>T
ENST00000680999.1:c.1653G>T	ENSP00000504984.1:p.Glu551Asp
ENST00000681282.1:c.*1627G>T	ENSP00000506339.1:n.*1627G>T
ENST00000333213.10:c.1440G>T	ENSP00000327487.6:p.Glu480Asp
ENST00000545228.2:c.717G>T
ENST00000577197.1:n.188G>T
ENST00000579449.1:n.637G>T
NM_207346.2:c.1440G>T	NP_997229.2:p.Glu480Asp
XM_005257229.2:c.1628G>T	XP_005257286.1:p.Ser543Ile
XM_006721821.2:c.1325G>T	XP_006721884.1:p.Ser442Ile
XM_011524616.1:c.1511G>T	XP_011522918.1:p.Ser504Ile
XM_011524617.1:c.*22G>T	XP_011522919.1:n.*22G>T
XM_011524618.1:c.1323G>T	XP_011522920.1:p.Glu441Asp
XR_243646.2:n.1672G>T
XM_005257229.4:c.1628G>T	XP_005257286.1:p.Ser543Ile
XR_001753015.1:n.87+40C>A
XR_001753016.1:n.88+40C>A
XR_243646.4:n.1678G>T
NM_207346.3:c.1440G>T MANE Select	NP_997229.2:p.Glu480Asp