Canonical Allele Identifier: CA2739561961

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524568A>T , CM000679.2:g.75524568A>T	GRCh38
NC_000017.10:g.73520649A>T , CM000679.1:g.73520649A>T	GRCh37
NC_000017.9:g.71032244A>T	NCBI36
NG_013041.1:g.13041A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*156A>T MANE Select	ENSP00000327487.6:n.*156A>T
ENST00000434205.8:c.*156A>T	ENSP00000406559.4:n.*156A>T
ENST00000545228.3:c.*236A>T	ENSP00000438169.3:n.*236A>T
ENST00000577197.2:n.935A>T
ENST00000579449.2:n.2477A>T
ENST00000580013.6:n.2881A>T
ENST00000679370.1:n.3259A>T
ENST00000679429.1:c.*1195A>T	ENSP00000505403.1:n.*1195A>T
ENST00000679443.1:n.1806A>T
ENST00000679782.1:c.*436A>T	ENSP00000505995.1:n.*436A>T
ENST00000679919.1:n.2008A>T
ENST00000679928.1:c.*2289A>T	ENSP00000506071.1:n.*2289A>T
ENST00000680999.1:c.*156A>T	ENSP00000504984.1:n.*156A>T
ENST00000681282.1:c.*1924A>T	ENSP00000506339.1:n.*1924A>T
ENST00000333213.10:c.*156A>T	ENSP00000327487.6:n.*156A>T
ENST00000545228.2:c.1014A>T
ENST00000577197.1:n.485A>T
NM_207346.2:c.*156A>T	NP_997229.2:n.*156A>T
XM_005257229.2:c.*236A>T	XP_005257286.1:n.*236A>T
XM_006721821.2:c.*236A>T	XP_006721884.1:n.*236A>T
XM_011524616.1:c.*236A>T	XP_011522918.1:n.*236A>T
XM_011524618.1:c.*156A>T	XP_011522920.1:n.*156A>T
XR_243646.2:n.1969A>T
XM_005257229.4:c.*236A>T	XP_005257286.1:n.*236A>T
XR_243646.4:n.1975A>T
NM_207346.3:c.*156A>T MANE Select	NP_997229.2:n.*156A>T