Canonical Allele Identifier: CA401031202

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520394G>T (hg19) ; chr17:g.75524313G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524313G>T , CM000679.2:g.75524313G>T	GRCh38
NC_000017.10:g.73520394G>T , CM000679.1:g.73520394G>T	GRCh37
NC_000017.9:g.71031989G>T	NCBI36
NG_013041.1:g.12786G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1482G>T MANE Select	ENSP00000327487.6:p.Gln494His
ENST00000434205.8:c.1179G>T	ENSP00000406559.4:p.Gln393His
ENST00000545228.3:c.1670G>T	ENSP00000438169.3:p.Arg557Ile
ENST00000577197.2:n.680G>T
ENST00000579449.2:n.2222G>T
ENST00000580013.6:n.2626G>T
ENST00000679370.1:n.3004G>T
ENST00000679429.1:c.*940G>T	ENSP00000505403.1:n.*940G>T
ENST00000679443.1:n.1551G>T
ENST00000679782.1:c.*181G>T	ENSP00000505995.1:n.*181G>T
ENST00000679919.1:n.1753G>T
ENST00000679928.1:c.*2034G>T	ENSP00000506071.1:n.*2034G>T
ENST00000680528.1:n.2448G>T
ENST00000680999.1:c.1695G>T	ENSP00000504984.1:p.Gln565His
ENST00000681282.1:c.*1669G>T	ENSP00000506339.1:n.*1669G>T
ENST00000333213.10:c.1482G>T	ENSP00000327487.6:p.Gln494His
ENST00000545228.2:c.759G>T
ENST00000577197.1:n.230G>T
ENST00000579449.1:n.679G>T
NM_207346.2:c.1482G>T	NP_997229.2:p.Gln494His
XM_005257229.2:c.1670G>T	XP_005257286.1:p.Arg557Ile
XM_006721821.2:c.1367G>T	XP_006721884.1:p.Arg456Ile
XM_011524616.1:c.1553G>T	XP_011522918.1:p.Arg518Ile
XM_011524617.1:c.*64G>T	XP_011522919.1:n.*64G>T
XM_011524618.1:c.1365G>T	XP_011522920.1:p.Gln455His
XR_243646.2:n.1714G>T
XM_005257229.4:c.1670G>T	XP_005257286.1:p.Arg557Ile
XR_001753015.1:n.85C>A
XR_001753016.1:n.86C>A
XR_243646.4:n.1720G>T
NM_207346.3:c.1482G>T MANE Select	NP_997229.2:p.Gln494His