Canonical Allele Identifier: CA8764397

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75523335G>A , CM000679.2:g.75523335G>A	GRCh38
NC_000017.10:g.73519416G>A , CM000679.1:g.73519416G>A	GRCh37
NC_000017.9:g.71031011G>A	NCBI36
NG_013041.1:g.11808G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_207346.3:c.1313G>A MANE Select	NP_997229.2:p.Arg438Gln
ENST00000333213.11:c.1313G>A MANE Select	ENSP00000327487.6:p.Arg438Gln
NM_207346.2:c.1313G>A	NP_997229.2:p.Arg438Gln
ENST00000333213.10:c.1313G>A	ENSP00000327487.6:p.Arg438Gln
ENST00000434205.8:c.1010G>A	ENSP00000406559.4:p.Arg337Gln
ENST00000545228.2:c.590G>A
ENST00000545228.3:c.1501G>A	ENSP00000438169.3:p.Gly501Ser
ENST00000577197.2:n.184G>A
ENST00000579449.1:n.510G>A
ENST00000579449.2:n.2053G>A
ENST00000580013.6:n.2457G>A
ENST00000679370.1:n.2835G>A
ENST00000679429.1:c.*771G>A	ENSP00000505403.1:n.*771G>A
ENST00000679443.1:n.1382G>A
ENST00000679782.1:c.*12G>A	ENSP00000505995.1:n.*12G>A
ENST00000679919.1:n.1584G>A
ENST00000679928.1:c.*1865G>A	ENSP00000506071.1:n.*1865G>A
ENST00000680528.1:n.2279G>A
ENST00000680999.1:c.1526G>A	ENSP00000504984.1:p.Arg509Gln
ENST00000681282.1:c.*1500G>A	ENSP00000506339.1:n.*1500G>A
XM_005257229.2:c.1501G>A	XP_005257286.1:p.Gly501Ser
XM_005257229.4:c.1501G>A	XP_005257286.1:p.Gly501Ser
XM_006721821.2:c.1198G>A	XP_006721884.1:p.Gly400Ser
XM_011524616.1:c.1501G>A	XP_011522918.1:p.Asp501Asn
XM_011524617.1:c.*12G>A	XP_011522919.1:n.*12G>A
XM_011524618.1:c.1313G>A	XP_011522920.1:p.Arg438Gln
XR_001753015.1:n.121C>T
XR_001753016.1:n.158C>T
XR_243646.2:n.1545G>A
XR_243646.4:n.1551G>A