Canonical Allele Identifier: CA401028203

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2015849
• ClinVar RCV Id: RCV002843606
• MyVariant Identifiers: chr17:g.73517515C>A (hg19) ; chr17:g.75521434C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521434C>A , CM000679.2:g.75521434C>A	GRCh38
NC_000017.10:g.73517515C>A , CM000679.1:g.73517515C>A	GRCh37
NC_000017.9:g.71029110C>A	NCBI36
NG_013041.1:g.9907C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.547C>A MANE Select	ENSP00000327487.6:p.Gln183Lys
ENST00000434205.8:c.244C>A	ENSP00000406559.4:p.Gln82Lys
ENST00000545228.3:c.547C>A	ENSP00000438169.3:p.Gln183Lys
ENST00000579449.2:n.346C>A
ENST00000580013.6:n.556C>A
ENST00000583818.2:c.601C>A	ENSP00000461928.2:n.601C>A
ENST00000679370.1:n.934C>A
ENST00000679429.1:c.*5C>A	ENSP00000505403.1:n.*5C>A
ENST00000679443.1:n.422C>A
ENST00000679782.1:c.547C>A	ENSP00000505995.1:p.Gln183Lys
ENST00000679919.1:n.422C>A
ENST00000679928.1:c.*158C>A	ENSP00000506071.1:n.*158C>A
ENST00000680528.1:n.572C>A
ENST00000680999.1:c.547C>A	ENSP00000504984.1:p.Gln183Lys
ENST00000681282.1:c.547C>A	ENSP00000506339.1:p.Gln183Lys
ENST00000333213.10:c.547C>A	ENSP00000327487.6:p.Gln183Lys
ENST00000578415.1:c.507C>A
ENST00000580013.5:n.564C>A
ENST00000583173.5:c.382C>A	ENSP00000463619.1:p.Gln128Lys
ENST00000583818.1:c.496C>A	ENSP00000461928.1:n.496C>A
NM_207346.2:c.547C>A	NP_997229.2:p.Gln183Lys
XM_005257229.2:c.547C>A	XP_005257286.1:p.Gln183Lys
XM_006721821.2:c.244C>A	XP_006721884.1:p.Gln82Lys
XM_011524616.1:c.547C>A	XP_011522918.1:p.Gln183Lys
XM_011524617.1:c.547C>A	XP_011522919.1:p.Gln183Lys
XM_011524618.1:c.547C>A	XP_011522920.1:p.Gln183Lys
XR_243646.2:n.577C>A
XM_005257229.4:c.547C>A	XP_005257286.1:p.Gln183Lys
XR_243646.4:n.583C>A
NM_207346.3:c.547C>A MANE Select	NP_997229.2:p.Gln183Lys