Canonical Allele Identifier: CA401031325

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520428G>T (hg19) ; chr17:g.75524347G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524347G>T , CM000679.2:g.75524347G>T	GRCh38
NC_000017.10:g.73520428G>T , CM000679.1:g.73520428G>T	GRCh37
NC_000017.9:g.71032023G>T	NCBI36
NG_013041.1:g.12820G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1516G>T MANE Select	ENSP00000327487.6:p.Asp506Tyr
ENST00000434205.8:c.1213G>T	ENSP00000406559.4:p.Asp405Tyr
ENST00000545228.3:c.*15G>T	ENSP00000438169.3:n.*15G>T
ENST00000577197.2:n.714G>T
ENST00000579449.2:n.2256G>T
ENST00000580013.6:n.2660G>T
ENST00000679370.1:n.3038G>T
ENST00000679429.1:c.*974G>T	ENSP00000505403.1:n.*974G>T
ENST00000679443.1:n.1585G>T
ENST00000679782.1:c.*215G>T	ENSP00000505995.1:n.*215G>T
ENST00000679919.1:n.1787G>T
ENST00000679928.1:c.*2068G>T	ENSP00000506071.1:n.*2068G>T
ENST00000680528.1:n.2482G>T
ENST00000680999.1:c.1729G>T	ENSP00000504984.1:p.Asp577Tyr
ENST00000681282.1:c.*1703G>T	ENSP00000506339.1:n.*1703G>T
ENST00000333213.10:c.1516G>T	ENSP00000327487.6:p.Asp506Tyr
ENST00000545228.2:c.793G>T
ENST00000577197.1:n.264G>T
ENST00000579449.1:n.713G>T
NM_207346.2:c.1516G>T	NP_997229.2:p.Asp506Tyr
XM_005257229.2:c.*15G>T	XP_005257286.1:n.*15G>T
XM_006721821.2:c.*15G>T	XP_006721884.1:n.*15G>T
XM_011524616.1:c.*15G>T	XP_011522918.1:n.*15G>T
XM_011524617.1:c.*98G>T	XP_011522919.1:n.*98G>T
XM_011524618.1:c.1399G>T	XP_011522920.1:p.Asp467Tyr
XR_243646.2:n.1748G>T
XM_005257229.4:c.*15G>T	XP_005257286.1:n.*15G>T
XR_001753015.1:n.51C>A
XR_001753016.1:n.52C>A
XR_243646.4:n.1754G>T
NM_207346.3:c.1516G>T MANE Select	NP_997229.2:p.Asp506Tyr