Canonical Allele Identifier: CA401031149

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520379G>T (hg19) ; chr17:g.75524298G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524298G>T , CM000679.2:g.75524298G>T	GRCh38
NC_000017.10:g.73520379G>T , CM000679.1:g.73520379G>T	GRCh37
NC_000017.9:g.71031974G>T	NCBI36
NG_013041.1:g.12771G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1467G>T MANE Select	ENSP00000327487.6:p.Lys489Asn
ENST00000434205.8:c.1164G>T	ENSP00000406559.4:p.Lys388Asn
ENST00000545228.3:c.1655G>T	ENSP00000438169.3:p.Ser552Ile
ENST00000577197.2:n.665G>T
ENST00000579449.2:n.2207G>T
ENST00000580013.6:n.2611G>T
ENST00000679370.1:n.2989G>T
ENST00000679429.1:c.*925G>T	ENSP00000505403.1:n.*925G>T
ENST00000679443.1:n.1536G>T
ENST00000679782.1:c.*166G>T	ENSP00000505995.1:n.*166G>T
ENST00000679919.1:n.1738G>T
ENST00000679928.1:c.*2019G>T	ENSP00000506071.1:n.*2019G>T
ENST00000680528.1:n.2433G>T
ENST00000680999.1:c.1680G>T	ENSP00000504984.1:p.Lys560Asn
ENST00000681282.1:c.*1654G>T	ENSP00000506339.1:n.*1654G>T
ENST00000333213.10:c.1467G>T	ENSP00000327487.6:p.Lys489Asn
ENST00000545228.2:c.744G>T
ENST00000577197.1:n.215G>T
ENST00000579449.1:n.664G>T
NM_207346.2:c.1467G>T	NP_997229.2:p.Lys489Asn
XM_005257229.2:c.1655G>T	XP_005257286.1:p.Ser552Ile
XM_006721821.2:c.1352G>T	XP_006721884.1:p.Ser451Ile
XM_011524616.1:c.1538G>T	XP_011522918.1:p.Ser513Ile
XM_011524617.1:c.*49G>T	XP_011522919.1:n.*49G>T
XM_011524618.1:c.1350G>T	XP_011522920.1:p.Lys450Asn
XR_243646.2:n.1699G>T
XM_005257229.4:c.1655G>T	XP_005257286.1:p.Ser552Ile
XR_001753015.1:n.87+13C>A
XR_001753016.1:n.88+13C>A
XR_243646.4:n.1705G>T
NM_207346.3:c.1467G>T MANE Select	NP_997229.2:p.Lys489Asn