Canonical Allele Identifier: CA401029543

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73518123G>A (hg19) ; chr17:g.75522042G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522042G>A , CM000679.2:g.75522042G>A	GRCh38
NC_000017.10:g.73518123G>A , CM000679.1:g.73518123G>A	GRCh37
NC_000017.9:g.71029718G>A	NCBI36
NG_013041.1:g.10515G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.961G>A MANE Select	ENSP00000327487.6:p.Glu321Lys
ENST00000434205.8:c.658G>A	ENSP00000406559.4:p.Glu220Lys
ENST00000545228.3:c.961G>A	ENSP00000438169.3:p.Glu321Lys
ENST00000579449.2:n.760G>A
ENST00000580013.6:n.1164G>A
ENST00000679370.1:n.1542G>A
ENST00000679429.1:c.*419G>A	ENSP00000505403.1:n.*419G>A
ENST00000679443.1:n.1030G>A
ENST00000679782.1:c.961G>A	ENSP00000505995.1:p.Glu321Lys
ENST00000679919.1:n.1030G>A
ENST00000679928.1:c.*572G>A	ENSP00000506071.1:n.*572G>A
ENST00000680528.1:n.986G>A
ENST00000680999.1:c.961G>A	ENSP00000504984.1:p.Glu321Lys
ENST00000681282.1:c.*207G>A	ENSP00000506339.1:n.*207G>A
ENST00000333213.10:c.961G>A	ENSP00000327487.6:p.Glu321Lys
ENST00000545228.2:c.50G>A
ENST00000578415.1:c.921G>A
ENST00000583173.5:c.494G>A	ENSP00000463619.1:p.Arg165Lys
NM_207346.2:c.961G>A	NP_997229.2:p.Glu321Lys
XM_005257229.2:c.961G>A	XP_005257286.1:p.Glu321Lys
XM_006721821.2:c.658G>A	XP_006721884.1:p.Glu220Lys
XM_011524616.1:c.961G>A	XP_011522918.1:p.Glu321Lys
XM_011524617.1:c.961G>A	XP_011522919.1:p.Glu321Lys
XM_011524618.1:c.961G>A	XP_011522920.1:p.Glu321Lys
XR_243646.2:n.991G>A
XM_005257229.4:c.961G>A	XP_005257286.1:p.Glu321Lys
XR_243646.4:n.997G>A
NM_207346.3:c.961G>A MANE Select	NP_997229.2:p.Glu321Lys