Canonical Allele Identifier: CA2739561931

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524549T>A , CM000679.2:g.75524549T>A	GRCh38
NC_000017.10:g.73520630T>A , CM000679.1:g.73520630T>A	GRCh37
NC_000017.9:g.71032225T>A	NCBI36
NG_013041.1:g.13022T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*137T>A MANE Select	ENSP00000327487.6:n.*137T>A
ENST00000434205.8:c.*137T>A	ENSP00000406559.4:n.*137T>A
ENST00000545228.3:c.*217T>A	ENSP00000438169.3:n.*217T>A
ENST00000577197.2:n.916T>A
ENST00000579449.2:n.2458T>A
ENST00000580013.6:n.2862T>A
ENST00000679370.1:n.3240T>A
ENST00000679429.1:c.*1176T>A	ENSP00000505403.1:n.*1176T>A
ENST00000679443.1:n.1787T>A
ENST00000679782.1:c.*417T>A	ENSP00000505995.1:n.*417T>A
ENST00000679919.1:n.1989T>A
ENST00000679928.1:c.*2270T>A	ENSP00000506071.1:n.*2270T>A
ENST00000680999.1:c.*137T>A	ENSP00000504984.1:n.*137T>A
ENST00000681282.1:c.*1905T>A	ENSP00000506339.1:n.*1905T>A
ENST00000333213.10:c.*137T>A	ENSP00000327487.6:n.*137T>A
ENST00000545228.2:c.995T>A
ENST00000577197.1:n.466T>A
NM_207346.2:c.*137T>A	NP_997229.2:n.*137T>A
XM_005257229.2:c.*217T>A	XP_005257286.1:n.*217T>A
XM_006721821.2:c.*217T>A	XP_006721884.1:n.*217T>A
XM_011524616.1:c.*217T>A	XP_011522918.1:n.*217T>A
XM_011524618.1:c.*137T>A	XP_011522920.1:n.*137T>A
XR_243646.2:n.1950T>A
XM_005257229.4:c.*217T>A	XP_005257286.1:n.*217T>A
XR_243646.4:n.1956T>A
NM_207346.3:c.*137T>A MANE Select	NP_997229.2:n.*137T>A