Canonical Allele Identifier: CA401029642

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73518173G>T (hg19) ; chr17:g.75522092G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522092G>T , CM000679.2:g.75522092G>T	GRCh38
NC_000017.10:g.73518173G>T , CM000679.1:g.73518173G>T	GRCh37
NC_000017.9:g.71029768G>T	NCBI36
NG_013041.1:g.10565G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1011G>T MANE Select	ENSP00000327487.6:p.Trp337Cys
ENST00000434205.8:c.708G>T	ENSP00000406559.4:p.Trp236Cys
ENST00000545228.3:c.1011G>T	ENSP00000438169.3:p.Trp337Cys
ENST00000579449.2:n.810G>T
ENST00000580013.6:n.1214G>T
ENST00000679370.1:n.1592G>T
ENST00000679429.1:c.*469G>T	ENSP00000505403.1:n.*469G>T
ENST00000679443.1:n.1080G>T
ENST00000679782.1:c.1011G>T	ENSP00000505995.1:p.Trp337Cys
ENST00000679919.1:n.1080G>T
ENST00000679928.1:c.*622G>T	ENSP00000506071.1:n.*622G>T
ENST00000680528.1:n.1036G>T
ENST00000680999.1:c.1011G>T	ENSP00000504984.1:p.Trp337Cys
ENST00000681282.1:c.*257G>T	ENSP00000506339.1:n.*257G>T
ENST00000333213.10:c.1011G>T	ENSP00000327487.6:p.Trp337Cys
ENST00000545228.2:c.100G>T
ENST00000578415.1:c.971G>T
ENST00000583173.5:c.544G>T	ENSP00000463619.1:n.544G>T
NM_207346.2:c.1011G>T	NP_997229.2:p.Trp337Cys
XM_005257229.2:c.1011G>T	XP_005257286.1:p.Trp337Cys
XM_006721821.2:c.708G>T	XP_006721884.1:p.Trp236Cys
XM_011524616.1:c.1011G>T	XP_011522918.1:p.Trp337Cys
XM_011524617.1:c.1011G>T	XP_011522919.1:p.Trp337Cys
XM_011524618.1:c.1011G>T	XP_011522920.1:p.Trp337Cys
XR_243646.2:n.1041G>T
XM_005257229.4:c.1011G>T	XP_005257286.1:p.Trp337Cys
XR_243646.4:n.1047G>T
NM_207346.3:c.1011G>T MANE Select	NP_997229.2:p.Trp337Cys