Canonical Allele Identifier: CA2739561817

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524459T>G , CM000679.2:g.75524459T>G	GRCh38
NC_000017.10:g.73520540T>G , CM000679.1:g.73520540T>G	GRCh37
NC_000017.9:g.71032135T>G	NCBI36
NG_013041.1:g.12932T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*47T>G MANE Select	ENSP00000327487.6:n.*47T>G
ENST00000434205.8:c.*47T>G	ENSP00000406559.4:n.*47T>G
ENST00000545228.3:c.*127T>G	ENSP00000438169.3:n.*127T>G
ENST00000577197.2:n.826T>G
ENST00000579449.2:n.2368T>G
ENST00000580013.6:n.2772T>G
ENST00000679370.1:n.3150T>G
ENST00000679429.1:c.*1086T>G	ENSP00000505403.1:n.*1086T>G
ENST00000679443.1:n.1697T>G
ENST00000679782.1:c.*327T>G	ENSP00000505995.1:n.*327T>G
ENST00000679919.1:n.1899T>G
ENST00000679928.1:c.*2180T>G	ENSP00000506071.1:n.*2180T>G
ENST00000680999.1:c.*47T>G	ENSP00000504984.1:n.*47T>G
ENST00000681282.1:c.*1815T>G	ENSP00000506339.1:n.*1815T>G
ENST00000333213.10:c.*47T>G	ENSP00000327487.6:n.*47T>G
ENST00000545228.2:c.905T>G
ENST00000577197.1:n.376T>G
NM_207346.2:c.*47T>G	NP_997229.2:n.*47T>G
XM_005257229.2:c.*127T>G	XP_005257286.1:n.*127T>G
XM_006721821.2:c.*127T>G	XP_006721884.1:n.*127T>G
XM_011524616.1:c.*127T>G	XP_011522918.1:n.*127T>G
XM_011524618.1:c.*47T>G	XP_011522920.1:n.*47T>G
XR_243646.2:n.1860T>G
XM_005257229.4:c.*127T>G	XP_005257286.1:n.*127T>G
XR_243646.4:n.1866T>G
NM_207346.3:c.*47T>G MANE Select	NP_997229.2:n.*47T>G