Canonical Allele Identifier: CA2639836603

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524633-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524633A>G , CM000679.2:g.75524633A>G	GRCh38
NC_000017.10:g.73520714A>G , CM000679.1:g.73520714A>G	GRCh37
NC_000017.9:g.71032309A>G	NCBI36
NG_013041.1:g.13106A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*221A>G MANE Select	ENSP00000327487.6:n.*221A>G
ENST00000434205.8:c.*221A>G	ENSP00000406559.4:n.*221A>G
ENST00000545228.3:c.*301A>G	ENSP00000438169.3:n.*301A>G
ENST00000577197.2:n.1000A>G
ENST00000579449.2:n.2542A>G
ENST00000580013.6:n.2946A>G
ENST00000679370.1:n.3324A>G
ENST00000679429.1:c.*1260A>G	ENSP00000505403.1:n.*1260A>G
ENST00000679443.1:n.1871A>G
ENST00000679782.1:c.*501A>G	ENSP00000505995.1:n.*501A>G
ENST00000679919.1:n.2073A>G
ENST00000679928.1:c.*2354A>G	ENSP00000506071.1:n.*2354A>G
ENST00000680999.1:c.*221A>G	ENSP00000504984.1:n.*221A>G
ENST00000681282.1:c.*1989A>G	ENSP00000506339.1:n.*1989A>G
ENST00000333213.10:c.*221A>G	ENSP00000327487.6:n.*221A>G
ENST00000545228.2:c.1079A>G
ENST00000577197.1:n.550A>G
NM_207346.2:c.*221A>G	NP_997229.2:n.*221A>G
XM_005257229.2:c.*301A>G	XP_005257286.1:n.*301A>G
XM_006721821.2:c.*301A>G	XP_006721884.1:n.*301A>G
XM_011524616.1:c.*301A>G	XP_011522918.1:n.*301A>G
XM_011524618.1:c.*221A>G	XP_011522920.1:n.*221A>G
XR_243646.2:n.2034A>G
XM_005257229.4:c.*301A>G	XP_005257286.1:n.*301A>G
XR_243646.4:n.2040A>G
NM_207346.3:c.*221A>G MANE Select	NP_997229.2:n.*221A>G