Canonical Allele Identifier: CA501819243

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520343A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524262A>G , CM000679.2:g.75524262A>G	GRCh38
NC_000017.10:g.73520343A>G , CM000679.1:g.73520343A>G	GRCh37
NC_000017.9:g.71031938A>G	NCBI36
NG_013041.1:g.12735A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1431A>G MANE Select	ENSP00000327487.6:p.Gly477=
ENST00000434205.8:c.1128A>G	ENSP00000406559.4:p.Gly376=
ENST00000545228.3:c.1619A>G	ENSP00000438169.3:p.Asp540Gly
ENST00000577197.2:n.629A>G
ENST00000579449.2:n.2171A>G
ENST00000580013.6:n.2575A>G
ENST00000679370.1:n.2953A>G
ENST00000679429.1:c.*889A>G	ENSP00000505403.1:n.*889A>G
ENST00000679443.1:n.1500A>G
ENST00000679782.1:c.*130A>G	ENSP00000505995.1:n.*130A>G
ENST00000679919.1:n.1702A>G
ENST00000679928.1:c.*1983A>G	ENSP00000506071.1:n.*1983A>G
ENST00000680528.1:n.2397A>G
ENST00000680999.1:c.1644A>G	ENSP00000504984.1:p.Gly548=
ENST00000681282.1:c.*1618A>G	ENSP00000506339.1:n.*1618A>G
ENST00000333213.10:c.1431A>G	ENSP00000327487.6:p.Gly477=
ENST00000545228.2:c.708A>G
ENST00000577197.1:n.179A>G
ENST00000579449.1:n.628A>G
NM_207346.2:c.1431A>G	NP_997229.2:p.Gly477=
XM_005257229.2:c.1619A>G	XP_005257286.1:p.Asp540Gly
XM_006721821.2:c.1316A>G	XP_006721884.1:p.Asp439Gly
XM_011524616.1:c.1502A>G	XP_011522918.1:p.Asp501Gly
XM_011524617.1:c.*13A>G	XP_011522919.1:n.*13A>G
XM_011524618.1:c.1314A>G	XP_011522920.1:p.Arg438=
XR_243646.2:n.1663A>G
XM_005257229.4:c.1619A>G	XP_005257286.1:p.Asp540Gly
XR_001753015.1:n.87+49T>C
XR_001753016.1:n.88+49T>C
XR_243646.4:n.1669A>G
NM_207346.3:c.1431A>G MANE Select	NP_997229.2:p.Gly477=