Canonical Allele Identifier: CA2639836586

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524626-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524626C>A , CM000679.2:g.75524626C>A	GRCh38
NC_000017.10:g.73520707C>A , CM000679.1:g.73520707C>A	GRCh37
NC_000017.9:g.71032302C>A	NCBI36
NG_013041.1:g.13099C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*214C>A MANE Select	ENSP00000327487.6:n.*214C>A
ENST00000434205.8:c.*214C>A	ENSP00000406559.4:n.*214C>A
ENST00000545228.3:c.*294C>A	ENSP00000438169.3:n.*294C>A
ENST00000577197.2:n.993C>A
ENST00000579449.2:n.2535C>A
ENST00000580013.6:n.2939C>A
ENST00000679370.1:n.3317C>A
ENST00000679429.1:c.*1253C>A	ENSP00000505403.1:n.*1253C>A
ENST00000679443.1:n.1864C>A
ENST00000679782.1:c.*494C>A	ENSP00000505995.1:n.*494C>A
ENST00000679919.1:n.2066C>A
ENST00000679928.1:c.*2347C>A	ENSP00000506071.1:n.*2347C>A
ENST00000680999.1:c.*214C>A	ENSP00000504984.1:n.*214C>A
ENST00000681282.1:c.*1982C>A	ENSP00000506339.1:n.*1982C>A
ENST00000333213.10:c.*214C>A	ENSP00000327487.6:n.*214C>A
ENST00000545228.2:c.1072C>A
ENST00000577197.1:n.543C>A
NM_207346.2:c.*214C>A	NP_997229.2:n.*214C>A
XM_005257229.2:c.*294C>A	XP_005257286.1:n.*294C>A
XM_006721821.2:c.*294C>A	XP_006721884.1:n.*294C>A
XM_011524616.1:c.*294C>A	XP_011522918.1:n.*294C>A
XM_011524618.1:c.*214C>A	XP_011522920.1:n.*214C>A
XR_243646.2:n.2027C>A
XM_005257229.4:c.*294C>A	XP_005257286.1:n.*294C>A
XR_243646.4:n.2033C>A
NM_207346.3:c.*214C>A MANE Select	NP_997229.2:n.*214C>A