Canonical Allele Identifier: CA401031146

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524297-A-G
• MyVariant Identifiers: chr17:g.73520378A>G (hg19) ; chr17:g.75524297A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524297A>G , CM000679.2:g.75524297A>G	GRCh38
NC_000017.10:g.73520378A>G , CM000679.1:g.73520378A>G	GRCh37
NC_000017.9:g.71031973A>G	NCBI36
NG_013041.1:g.12770A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1466A>G MANE Select	ENSP00000327487.6:p.Lys489Arg
ENST00000434205.8:c.1163A>G	ENSP00000406559.4:p.Lys388Arg
ENST00000545228.3:c.1654A>G	ENSP00000438169.3:p.Ser552Gly
ENST00000577197.2:n.664A>G
ENST00000579449.2:n.2206A>G
ENST00000580013.6:n.2610A>G
ENST00000679370.1:n.2988A>G
ENST00000679429.1:c.*924A>G	ENSP00000505403.1:n.*924A>G
ENST00000679443.1:n.1535A>G
ENST00000679782.1:c.*165A>G	ENSP00000505995.1:n.*165A>G
ENST00000679919.1:n.1737A>G
ENST00000679928.1:c.*2018A>G	ENSP00000506071.1:n.*2018A>G
ENST00000680528.1:n.2432A>G
ENST00000680999.1:c.1679A>G	ENSP00000504984.1:p.Lys560Arg
ENST00000681282.1:c.*1653A>G	ENSP00000506339.1:n.*1653A>G
ENST00000333213.10:c.1466A>G	ENSP00000327487.6:p.Lys489Arg
ENST00000545228.2:c.743A>G
ENST00000577197.1:n.214A>G
ENST00000579449.1:n.663A>G
NM_207346.2:c.1466A>G	NP_997229.2:p.Lys489Arg
XM_005257229.2:c.1654A>G	XP_005257286.1:p.Ser552Gly
XM_006721821.2:c.1351A>G	XP_006721884.1:p.Ser451Gly
XM_011524616.1:c.1537A>G	XP_011522918.1:p.Ser513Gly
XM_011524617.1:c.*48A>G	XP_011522919.1:n.*48A>G
XM_011524618.1:c.1349A>G	XP_011522920.1:p.Lys450Arg
XR_243646.2:n.1698A>G
XM_005257229.4:c.1654A>G	XP_005257286.1:p.Ser552Gly
XR_001753015.1:n.87+14T>C
XR_001753016.1:n.88+14T>C
XR_243646.4:n.1704A>G
NM_207346.3:c.1466A>G MANE Select	NP_997229.2:p.Lys489Arg