Canonical Allele Identifier: CA401029581

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73518142T>A (hg19) ; chr17:g.75522061T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522061T>A , CM000679.2:g.75522061T>A	GRCh38
NC_000017.10:g.73518142T>A , CM000679.1:g.73518142T>A	GRCh37
NC_000017.9:g.71029737T>A	NCBI36
NG_013041.1:g.10534T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.980T>A MANE Select	ENSP00000327487.6:p.Val327Glu
ENST00000434205.8:c.677T>A	ENSP00000406559.4:p.Val226Glu
ENST00000545228.3:c.980T>A	ENSP00000438169.3:p.Val327Glu
ENST00000579449.2:n.779T>A
ENST00000580013.6:n.1183T>A
ENST00000679370.1:n.1561T>A
ENST00000679429.1:c.*438T>A	ENSP00000505403.1:n.*438T>A
ENST00000679443.1:n.1049T>A
ENST00000679782.1:c.980T>A	ENSP00000505995.1:p.Val327Glu
ENST00000679919.1:n.1049T>A
ENST00000679928.1:c.*591T>A	ENSP00000506071.1:n.*591T>A
ENST00000680528.1:n.1005T>A
ENST00000680999.1:c.980T>A	ENSP00000504984.1:p.Val327Glu
ENST00000681282.1:c.*226T>A	ENSP00000506339.1:n.*226T>A
ENST00000333213.10:c.980T>A	ENSP00000327487.6:p.Val327Glu
ENST00000545228.2:c.69T>A
ENST00000578415.1:c.940T>A
ENST00000583173.5:c.513T>A	ENSP00000463619.1:p.Arg171=
NM_207346.2:c.980T>A	NP_997229.2:p.Val327Glu
XM_005257229.2:c.980T>A	XP_005257286.1:p.Val327Glu
XM_006721821.2:c.677T>A	XP_006721884.1:p.Val226Glu
XM_011524616.1:c.980T>A	XP_011522918.1:p.Val327Glu
XM_011524617.1:c.980T>A	XP_011522919.1:p.Val327Glu
XM_011524618.1:c.980T>A	XP_011522920.1:p.Val327Glu
XR_243646.2:n.1010T>A
XM_005257229.4:c.980T>A	XP_005257286.1:p.Val327Glu
XR_243646.4:n.1016T>A
NM_207346.3:c.980T>A MANE Select	NP_997229.2:p.Val327Glu