Canonical Allele Identifier: CA8764360

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522217G>A , CM000679.2:g.75522217G>A	GRCh38
NC_000017.10:g.73518298G>A , CM000679.1:g.73518298G>A	GRCh37
NC_000017.9:g.71029893G>A	NCBI36
NG_013041.1:g.10690G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_207346.3:c.1136G>A MANE Select	NP_997229.2:p.Arg379Gln
ENST00000333213.11:c.1136G>A MANE Select	ENSP00000327487.6:p.Arg379Gln
NM_207346.2:c.1136G>A	NP_997229.2:p.Arg379Gln
ENST00000333213.10:c.1136G>A	ENSP00000327487.6:p.Arg379Gln
ENST00000434205.8:c.833G>A	ENSP00000406559.4:p.Arg278Gln
ENST00000545228.2:c.225G>A
ENST00000545228.3:c.1136G>A	ENSP00000438169.3:p.Arg379Gln
ENST00000579449.2:n.935G>A
ENST00000580013.6:n.1339G>A
ENST00000583173.5:c.669G>A	ENSP00000463619.1:n.669G>A
ENST00000679370.1:n.1717G>A
ENST00000679429.1:c.*594G>A	ENSP00000505403.1:n.*594G>A
ENST00000679443.1:n.1205G>A
ENST00000679782.1:c.1136G>A	ENSP00000505995.1:p.Arg379Gln
ENST00000679919.1:n.1205G>A
ENST00000679928.1:c.*747G>A	ENSP00000506071.1:n.*747G>A
ENST00000680528.1:n.1161G>A
ENST00000680999.1:c.1136G>A	ENSP00000504984.1:p.Arg379Gln
ENST00000681282.1:c.*382G>A	ENSP00000506339.1:n.*382G>A
XM_005257229.2:c.1136G>A	XP_005257286.1:p.Arg379Gln
XM_005257229.4:c.1136G>A	XP_005257286.1:p.Arg379Gln
XM_006721821.2:c.833G>A	XP_006721884.1:p.Arg278Gln
XM_011524616.1:c.1136G>A	XP_011522918.1:p.Arg379Gln
XM_011524617.1:c.1136G>A	XP_011522919.1:p.Arg379Gln
XM_011524618.1:c.1136G>A	XP_011522920.1:p.Arg379Gln
XR_243646.2:n.1166G>A
XR_243646.4:n.1172G>A