Canonical Allele Identifier: CA2639836564

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524615-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524615A>G , CM000679.2:g.75524615A>G	GRCh38
NC_000017.10:g.73520696A>G , CM000679.1:g.73520696A>G	GRCh37
NC_000017.9:g.71032291A>G	NCBI36
NG_013041.1:g.13088A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*203A>G MANE Select	ENSP00000327487.6:n.*203A>G
ENST00000434205.8:c.*203A>G	ENSP00000406559.4:n.*203A>G
ENST00000545228.3:c.*283A>G	ENSP00000438169.3:n.*283A>G
ENST00000577197.2:n.982A>G
ENST00000579449.2:n.2524A>G
ENST00000580013.6:n.2928A>G
ENST00000679370.1:n.3306A>G
ENST00000679429.1:c.*1242A>G	ENSP00000505403.1:n.*1242A>G
ENST00000679443.1:n.1853A>G
ENST00000679782.1:c.*483A>G	ENSP00000505995.1:n.*483A>G
ENST00000679919.1:n.2055A>G
ENST00000679928.1:c.*2336A>G	ENSP00000506071.1:n.*2336A>G
ENST00000680999.1:c.*203A>G	ENSP00000504984.1:n.*203A>G
ENST00000681282.1:c.*1971A>G	ENSP00000506339.1:n.*1971A>G
ENST00000333213.10:c.*203A>G	ENSP00000327487.6:n.*203A>G
ENST00000545228.2:c.1061A>G
ENST00000577197.1:n.532A>G
NM_207346.2:c.*203A>G	NP_997229.2:n.*203A>G
XM_005257229.2:c.*283A>G	XP_005257286.1:n.*283A>G
XM_006721821.2:c.*283A>G	XP_006721884.1:n.*283A>G
XM_011524616.1:c.*283A>G	XP_011522918.1:n.*283A>G
XM_011524618.1:c.*203A>G	XP_011522920.1:n.*203A>G
XR_243646.2:n.2016A>G
XM_005257229.4:c.*283A>G	XP_005257286.1:n.*283A>G
XR_243646.4:n.2022A>G
NM_207346.3:c.*203A>G MANE Select	NP_997229.2:n.*203A>G