Canonical Allele Identifier: CA2739561876

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524507A>G , CM000679.2:g.75524507A>G	GRCh38
NC_000017.10:g.73520588A>G , CM000679.1:g.73520588A>G	GRCh37
NC_000017.9:g.71032183A>G	NCBI36
NG_013041.1:g.12980A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*95A>G MANE Select	ENSP00000327487.6:n.*95A>G
ENST00000434205.8:c.*95A>G	ENSP00000406559.4:n.*95A>G
ENST00000545228.3:c.*175A>G	ENSP00000438169.3:n.*175A>G
ENST00000577197.2:n.874A>G
ENST00000579449.2:n.2416A>G
ENST00000580013.6:n.2820A>G
ENST00000679370.1:n.3198A>G
ENST00000679429.1:c.*1134A>G	ENSP00000505403.1:n.*1134A>G
ENST00000679443.1:n.1745A>G
ENST00000679782.1:c.*375A>G	ENSP00000505995.1:n.*375A>G
ENST00000679919.1:n.1947A>G
ENST00000679928.1:c.*2228A>G	ENSP00000506071.1:n.*2228A>G
ENST00000680999.1:c.*95A>G	ENSP00000504984.1:n.*95A>G
ENST00000681282.1:c.*1863A>G	ENSP00000506339.1:n.*1863A>G
ENST00000333213.10:c.*95A>G	ENSP00000327487.6:n.*95A>G
ENST00000545228.2:c.953A>G
ENST00000577197.1:n.424A>G
NM_207346.2:c.*95A>G	NP_997229.2:n.*95A>G
XM_005257229.2:c.*175A>G	XP_005257286.1:n.*175A>G
XM_006721821.2:c.*175A>G	XP_006721884.1:n.*175A>G
XM_011524616.1:c.*175A>G	XP_011522918.1:n.*175A>G
XM_011524618.1:c.*95A>G	XP_011522920.1:n.*95A>G
XR_243646.2:n.1908A>G
XM_005257229.4:c.*175A>G	XP_005257286.1:n.*175A>G
XR_243646.4:n.1914A>G
NM_207346.3:c.*95A>G MANE Select	NP_997229.2:n.*95A>G