Canonical Allele Identifier: CA401031558

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520493A>G (hg19) ; chr17:g.75524412A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524412A>G , CM000679.2:g.75524412A>G	GRCh38
NC_000017.10:g.73520493A>G , CM000679.1:g.73520493A>G	GRCh37
NC_000017.9:g.71032088A>G	NCBI36
NG_013041.1:g.12885A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1581A>G MANE Select	ENSP00000327487.6:p.Ter527Trp
ENST00000434205.8:c.1278A>G	ENSP00000406559.4:p.Ter426Trp
ENST00000545228.3:c.*80A>G	ENSP00000438169.3:n.*80A>G
ENST00000577197.2:n.779A>G
ENST00000579449.2:n.2321A>G
ENST00000580013.6:n.2725A>G
ENST00000679370.1:n.3103A>G
ENST00000679429.1:c.*1039A>G	ENSP00000505403.1:n.*1039A>G
ENST00000679443.1:n.1650A>G
ENST00000679782.1:c.*280A>G	ENSP00000505995.1:n.*280A>G
ENST00000679919.1:n.1852A>G
ENST00000679928.1:c.*2133A>G	ENSP00000506071.1:n.*2133A>G
ENST00000680528.1:n.2547A>G
ENST00000680999.1:c.1794A>G	ENSP00000504984.1:p.Ter598Trp
ENST00000681282.1:c.*1768A>G	ENSP00000506339.1:n.*1768A>G
ENST00000333213.10:c.1581A>G	ENSP00000327487.6:p.Ter527Trp
ENST00000545228.2:c.858A>G
ENST00000577197.1:n.329A>G
ENST00000579449.1:n.778A>G
NM_207346.2:c.1581A>G	NP_997229.2:p.Ter527Trp
XM_005257229.2:c.*80A>G	XP_005257286.1:n.*80A>G
XM_006721821.2:c.*80A>G	XP_006721884.1:n.*80A>G
XM_011524616.1:c.*80A>G	XP_011522918.1:n.*80A>G
XM_011524618.1:c.1464A>G	XP_011522920.1:p.Ter488Trp
XR_243646.2:n.1813A>G
XM_005257229.4:c.*80A>G	XP_005257286.1:n.*80A>G
XR_243646.4:n.1819A>G
NM_207346.3:c.1581A>G MANE Select	NP_997229.2:p.Ter527Trp