Canonical Allele Identifier: CA401031328

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520429A>T (hg19) ; chr17:g.75524348A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524348A>T , CM000679.2:g.75524348A>T	GRCh38
NC_000017.10:g.73520429A>T , CM000679.1:g.73520429A>T	GRCh37
NC_000017.9:g.71032024A>T	NCBI36
NG_013041.1:g.12821A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1517A>T MANE Select	ENSP00000327487.6:p.Asp506Val
ENST00000434205.8:c.1214A>T	ENSP00000406559.4:p.Asp405Val
ENST00000545228.3:c.*16A>T	ENSP00000438169.3:n.*16A>T
ENST00000577197.2:n.715A>T
ENST00000579449.2:n.2257A>T
ENST00000580013.6:n.2661A>T
ENST00000679370.1:n.3039A>T
ENST00000679429.1:c.*975A>T	ENSP00000505403.1:n.*975A>T
ENST00000679443.1:n.1586A>T
ENST00000679782.1:c.*216A>T	ENSP00000505995.1:n.*216A>T
ENST00000679919.1:n.1788A>T
ENST00000679928.1:c.*2069A>T	ENSP00000506071.1:n.*2069A>T
ENST00000680528.1:n.2483A>T
ENST00000680999.1:c.1730A>T	ENSP00000504984.1:p.Asp577Val
ENST00000681282.1:c.*1704A>T	ENSP00000506339.1:n.*1704A>T
ENST00000333213.10:c.1517A>T	ENSP00000327487.6:p.Asp506Val
ENST00000545228.2:c.794A>T
ENST00000577197.1:n.265A>T
ENST00000579449.1:n.714A>T
NM_207346.2:c.1517A>T	NP_997229.2:p.Asp506Val
XM_005257229.2:c.*16A>T	XP_005257286.1:n.*16A>T
XM_006721821.2:c.*16A>T	XP_006721884.1:n.*16A>T
XM_011524616.1:c.*16A>T	XP_011522918.1:n.*16A>T
XM_011524617.1:c.*99A>T	XP_011522919.1:n.*99A>T
XM_011524618.1:c.1400A>T	XP_011522920.1:p.Asp467Val
XR_243646.2:n.1749A>T
XM_005257229.4:c.*16A>T	XP_005257286.1:n.*16A>T
XR_001753015.1:n.50T>A
XR_001753016.1:n.51T>A
XR_243646.4:n.1755A>T
NM_207346.3:c.1517A>T MANE Select	NP_997229.2:p.Asp506Val