Canonical Allele Identifier: CA401029552

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73518127T>A (hg19) ; chr17:g.75522046T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522046T>A , CM000679.2:g.75522046T>A	GRCh38
NC_000017.10:g.73518127T>A , CM000679.1:g.73518127T>A	GRCh37
NC_000017.9:g.71029722T>A	NCBI36
NG_013041.1:g.10519T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.965T>A MANE Select	ENSP00000327487.6:p.Leu322Gln
ENST00000434205.8:c.662T>A	ENSP00000406559.4:p.Leu221Gln
ENST00000545228.3:c.965T>A	ENSP00000438169.3:p.Leu322Gln
ENST00000579449.2:n.764T>A
ENST00000580013.6:n.1168T>A
ENST00000679370.1:n.1546T>A
ENST00000679429.1:c.*423T>A	ENSP00000505403.1:n.*423T>A
ENST00000679443.1:n.1034T>A
ENST00000679782.1:c.965T>A	ENSP00000505995.1:p.Leu322Gln
ENST00000679919.1:n.1034T>A
ENST00000679928.1:c.*576T>A	ENSP00000506071.1:n.*576T>A
ENST00000680528.1:n.990T>A
ENST00000680999.1:c.965T>A	ENSP00000504984.1:p.Leu322Gln
ENST00000681282.1:c.*211T>A	ENSP00000506339.1:n.*211T>A
ENST00000333213.10:c.965T>A	ENSP00000327487.6:p.Leu322Gln
ENST00000545228.2:c.54T>A
ENST00000578415.1:c.925T>A
ENST00000583173.5:c.498T>A	ENSP00000463619.1:p.Ala166=
NM_207346.2:c.965T>A	NP_997229.2:p.Leu322Gln
XM_005257229.2:c.965T>A	XP_005257286.1:p.Leu322Gln
XM_006721821.2:c.662T>A	XP_006721884.1:p.Leu221Gln
XM_011524616.1:c.965T>A	XP_011522918.1:p.Leu322Gln
XM_011524617.1:c.965T>A	XP_011522919.1:p.Leu322Gln
XM_011524618.1:c.965T>A	XP_011522920.1:p.Leu322Gln
XR_243646.2:n.995T>A
XM_005257229.4:c.965T>A	XP_005257286.1:p.Leu322Gln
XR_243646.4:n.1001T>A
NM_207346.3:c.965T>A MANE Select	NP_997229.2:p.Leu322Gln