Canonical Allele Identifier: CA2739561863

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524496C>G , CM000679.2:g.75524496C>G	GRCh38
NC_000017.10:g.73520577C>G , CM000679.1:g.73520577C>G	GRCh37
NC_000017.9:g.71032172C>G	NCBI36
NG_013041.1:g.12969C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*84C>G MANE Select	ENSP00000327487.6:n.*84C>G
ENST00000434205.8:c.*84C>G	ENSP00000406559.4:n.*84C>G
ENST00000545228.3:c.*164C>G	ENSP00000438169.3:n.*164C>G
ENST00000577197.2:n.863C>G
ENST00000579449.2:n.2405C>G
ENST00000580013.6:n.2809C>G
ENST00000679370.1:n.3187C>G
ENST00000679429.1:c.*1123C>G	ENSP00000505403.1:n.*1123C>G
ENST00000679443.1:n.1734C>G
ENST00000679782.1:c.*364C>G	ENSP00000505995.1:n.*364C>G
ENST00000679919.1:n.1936C>G
ENST00000679928.1:c.*2217C>G	ENSP00000506071.1:n.*2217C>G
ENST00000680999.1:c.*84C>G	ENSP00000504984.1:n.*84C>G
ENST00000681282.1:c.*1852C>G	ENSP00000506339.1:n.*1852C>G
ENST00000333213.10:c.*84C>G	ENSP00000327487.6:n.*84C>G
ENST00000545228.2:c.942C>G
ENST00000577197.1:n.413C>G
NM_207346.2:c.*84C>G	NP_997229.2:n.*84C>G
XM_005257229.2:c.*164C>G	XP_005257286.1:n.*164C>G
XM_006721821.2:c.*164C>G	XP_006721884.1:n.*164C>G
XM_011524616.1:c.*164C>G	XP_011522918.1:n.*164C>G
XM_011524618.1:c.*84C>G	XP_011522920.1:n.*84C>G
XR_243646.2:n.1897C>G
XM_005257229.4:c.*164C>G	XP_005257286.1:n.*164C>G
XR_243646.4:n.1903C>G
NM_207346.3:c.*84C>G MANE Select	NP_997229.2:n.*84C>G