Canonical Allele Identifier: CA2639836568

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524616-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524616A>G , CM000679.2:g.75524616A>G	GRCh38
NC_000017.10:g.73520697A>G , CM000679.1:g.73520697A>G	GRCh37
NC_000017.9:g.71032292A>G	NCBI36
NG_013041.1:g.13089A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*204A>G MANE Select	ENSP00000327487.6:n.*204A>G
ENST00000434205.8:c.*204A>G	ENSP00000406559.4:n.*204A>G
ENST00000545228.3:c.*284A>G	ENSP00000438169.3:n.*284A>G
ENST00000577197.2:n.983A>G
ENST00000579449.2:n.2525A>G
ENST00000580013.6:n.2929A>G
ENST00000679370.1:n.3307A>G
ENST00000679429.1:c.*1243A>G	ENSP00000505403.1:n.*1243A>G
ENST00000679443.1:n.1854A>G
ENST00000679782.1:c.*484A>G	ENSP00000505995.1:n.*484A>G
ENST00000679919.1:n.2056A>G
ENST00000679928.1:c.*2337A>G	ENSP00000506071.1:n.*2337A>G
ENST00000680999.1:c.*204A>G	ENSP00000504984.1:n.*204A>G
ENST00000681282.1:c.*1972A>G	ENSP00000506339.1:n.*1972A>G
ENST00000333213.10:c.*204A>G	ENSP00000327487.6:n.*204A>G
ENST00000545228.2:c.1062A>G
ENST00000577197.1:n.533A>G
NM_207346.2:c.*204A>G	NP_997229.2:n.*204A>G
XM_005257229.2:c.*284A>G	XP_005257286.1:n.*284A>G
XM_006721821.2:c.*284A>G	XP_006721884.1:n.*284A>G
XM_011524616.1:c.*284A>G	XP_011522918.1:n.*284A>G
XM_011524618.1:c.*204A>G	XP_011522920.1:n.*204A>G
XR_243646.2:n.2017A>G
XM_005257229.4:c.*284A>G	XP_005257286.1:n.*284A>G
XR_243646.4:n.2023A>G
NM_207346.3:c.*204A>G MANE Select	NP_997229.2:n.*204A>G