Canonical Allele Identifier: CA401031055

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520353C>A (hg19) ; chr17:g.75524272C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524272C>A , CM000679.2:g.75524272C>A	GRCh38
NC_000017.10:g.73520353C>A , CM000679.1:g.73520353C>A	GRCh37
NC_000017.9:g.71031948C>A	NCBI36
NG_013041.1:g.12745C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1441C>A MANE Select	ENSP00000327487.6:p.Pro481Thr
ENST00000434205.8:c.1138C>A	ENSP00000406559.4:p.Pro380Thr
ENST00000545228.3:c.1629C>A	ENSP00000438169.3:p.Ser543Arg
ENST00000577197.2:n.639C>A
ENST00000579449.2:n.2181C>A
ENST00000580013.6:n.2585C>A
ENST00000679370.1:n.2963C>A
ENST00000679429.1:c.*899C>A	ENSP00000505403.1:n.*899C>A
ENST00000679443.1:n.1510C>A
ENST00000679782.1:c.*140C>A	ENSP00000505995.1:n.*140C>A
ENST00000679919.1:n.1712C>A
ENST00000679928.1:c.*1993C>A	ENSP00000506071.1:n.*1993C>A
ENST00000680528.1:n.2407C>A
ENST00000680999.1:c.1654C>A	ENSP00000504984.1:p.Pro552Thr
ENST00000681282.1:c.*1628C>A	ENSP00000506339.1:n.*1628C>A
ENST00000333213.10:c.1441C>A	ENSP00000327487.6:p.Pro481Thr
ENST00000545228.2:c.718C>A
ENST00000577197.1:n.189C>A
ENST00000579449.1:n.638C>A
NM_207346.2:c.1441C>A	NP_997229.2:p.Pro481Thr
XM_005257229.2:c.1629C>A	XP_005257286.1:p.Ser543Arg
XM_006721821.2:c.1326C>A	XP_006721884.1:p.Ser442Arg
XM_011524616.1:c.1512C>A	XP_011522918.1:p.Ser504Arg
XM_011524617.1:c.*23C>A	XP_011522919.1:n.*23C>A
XM_011524618.1:c.1324C>A	XP_011522920.1:p.Pro442Thr
XR_243646.2:n.1673C>A
XM_005257229.4:c.1629C>A	XP_005257286.1:p.Ser543Arg
XR_001753015.1:n.87+39G>T
XR_001753016.1:n.88+39G>T
XR_243646.4:n.1679C>A
NM_207346.3:c.1441C>A MANE Select	NP_997229.2:p.Pro481Thr