Canonical Allele Identifier: CA294078891

Gene: TSEN54

Linked Data

• dbSNP Id: rs951244548
• gnomAD v4: 17-75521807-G-A
• MyVariant Identifiers: chr17:g.73517888G>A (hg19) ; chr17:g.75521807G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521807G>A , CM000679.2:g.75521807G>A	GRCh38
NC_000017.10:g.73517888G>A , CM000679.1:g.73517888G>A	GRCh37
NC_000017.9:g.71029483G>A	NCBI36
NG_013041.1:g.10280G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.726G>A MANE Select	ENSP00000327487.6:p.Glu242=
ENST00000434205.8:c.423G>A	ENSP00000406559.4:p.Glu141=
ENST00000545228.3:c.726G>A	ENSP00000438169.3:p.Glu242=
ENST00000579449.2:n.525G>A
ENST00000580013.6:n.929G>A
ENST00000583818.2:c.780G>A	ENSP00000461928.2:n.780G>A
ENST00000679370.1:n.1307G>A
ENST00000679429.1:c.*184G>A	ENSP00000505403.1:n.*184G>A
ENST00000679443.1:n.795G>A
ENST00000679782.1:c.726G>A	ENSP00000505995.1:p.Glu242=
ENST00000679919.1:n.795G>A
ENST00000679928.1:c.*337G>A	ENSP00000506071.1:n.*337G>A
ENST00000680528.1:n.751G>A
ENST00000680999.1:c.726G>A	ENSP00000504984.1:p.Glu242=
ENST00000681282.1:c.755G>A	ENSP00000506339.1:p.Arg252Lys
ENST00000333213.10:c.726G>A	ENSP00000327487.6:p.Glu242=
ENST00000578415.1:c.686G>A
ENST00000583173.5:c.459-200G>A	ENSP00000463619.1:n.459-200G>A
ENST00000583818.1:c.675G>A	ENSP00000461928.1:n.675G>A
NM_207346.2:c.726G>A	NP_997229.2:p.Glu242=
XM_005257229.2:c.726G>A	XP_005257286.1:p.Glu242=
XM_006721821.2:c.423G>A	XP_006721884.1:p.Glu141=
XM_011524616.1:c.726G>A	XP_011522918.1:p.Glu242=
XM_011524617.1:c.726G>A	XP_011522919.1:p.Glu242=
XM_011524618.1:c.726G>A	XP_011522920.1:p.Glu242=
XR_243646.2:n.756G>A
XM_005257229.4:c.726G>A	XP_005257286.1:p.Glu242=
XR_243646.4:n.762G>A
NM_207346.3:c.726G>A MANE Select	NP_997229.2:p.Glu242=