Canonical Allele Identifier: CA2639836626

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524641-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524641A>G , CM000679.2:g.75524641A>G	GRCh38
NC_000017.10:g.73520722A>G , CM000679.1:g.73520722A>G	GRCh37
NC_000017.9:g.71032317A>G	NCBI36
NG_013041.1:g.13114A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*229A>G MANE Select	ENSP00000327487.6:n.*229A>G
ENST00000434205.8:c.*229A>G	ENSP00000406559.4:n.*229A>G
ENST00000545228.3:c.*309A>G	ENSP00000438169.3:n.*309A>G
ENST00000577197.2:n.1008A>G
ENST00000579449.2:n.2550A>G
ENST00000580013.6:n.2954A>G
ENST00000679370.1:n.3332A>G
ENST00000679429.1:c.*1268A>G	ENSP00000505403.1:n.*1268A>G
ENST00000679443.1:n.1879A>G
ENST00000679782.1:c.*509A>G	ENSP00000505995.1:n.*509A>G
ENST00000679919.1:n.2081A>G
ENST00000679928.1:c.*2362A>G	ENSP00000506071.1:n.*2362A>G
ENST00000680999.1:c.*229A>G	ENSP00000504984.1:n.*229A>G
ENST00000681282.1:c.*1997A>G	ENSP00000506339.1:n.*1997A>G
ENST00000333213.10:c.*229A>G	ENSP00000327487.6:n.*229A>G
ENST00000545228.2:c.1087A>G
ENST00000577197.1:n.558A>G
NM_207346.2:c.*229A>G	NP_997229.2:n.*229A>G
XM_005257229.2:c.*309A>G	XP_005257286.1:n.*309A>G
XM_006721821.2:c.*309A>G	XP_006721884.1:n.*309A>G
XM_011524616.1:c.*309A>G	XP_011522918.1:n.*309A>G
XM_011524618.1:c.*229A>G	XP_011522920.1:n.*229A>G
XR_243646.2:n.2042A>G
XM_005257229.4:c.*309A>G	XP_005257286.1:n.*309A>G
XR_243646.4:n.2048A>G
NM_207346.3:c.*229A>G MANE Select	NP_997229.2:n.*229A>G