Canonical Allele Identifier: CA2639826305

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75521362-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521362G>C , CM000679.2:g.75521362G>C	GRCh38
NC_000017.10:g.73517443G>C , CM000679.1:g.73517443G>C	GRCh37
NC_000017.9:g.71029038G>C	NCBI36
NG_013041.1:g.9835G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.522-47G>C MANE Select	ENSP00000327487.6:n.522-47G>C
ENST00000434205.8:c.219-47G>C	ENSP00000406559.4:n.219-47G>C
ENST00000545228.3:c.522-47G>C	ENSP00000438169.3:n.522-47G>C
ENST00000579449.2:n.321-47G>C
ENST00000580013.6:n.531-47G>C
ENST00000583818.2:c.529G>C	ENSP00000461928.2:p.Gly177Arg
ENST00000679370.1:n.909-47G>C
ENST00000679429.1:c.514-47G>C	ENSP00000505403.1:n.514-47G>C
ENST00000679443.1:n.397-47G>C
ENST00000679782.1:c.522-47G>C	ENSP00000505995.1:n.522-47G>C
ENST00000679919.1:n.397-47G>C
ENST00000679928.1:c.*133-47G>C	ENSP00000506071.1:n.*133-47G>C
ENST00000680528.1:n.547-47G>C
ENST00000680999.1:c.522-47G>C	ENSP00000504984.1:n.522-47G>C
ENST00000681282.1:c.522-47G>C	ENSP00000506339.1:n.522-47G>C
ENST00000333213.10:c.522-47G>C	ENSP00000327487.6:n.522-47G>C
ENST00000578415.1:c.482-47G>C
ENST00000580013.5:n.539-47G>C
ENST00000583173.5:c.357-47G>C	ENSP00000463619.1:n.357-47G>C
ENST00000583818.1:c.424G>C	ENSP00000461928.1:p.Gly142Arg
NM_207346.2:c.522-47G>C	NP_997229.2:n.522-47G>C
XM_005257229.2:c.522-47G>C	XP_005257286.1:n.522-47G>C
XM_006721821.2:c.219-47G>C	XP_006721884.1:n.219-47G>C
XM_011524616.1:c.522-47G>C	XP_011522918.1:n.522-47G>C
XM_011524617.1:c.522-47G>C	XP_011522919.1:n.522-47G>C
XM_011524618.1:c.522-47G>C	XP_011522920.1:n.522-47G>C
XR_243646.2:n.552-47G>C
XM_005257229.4:c.522-47G>C	XP_005257286.1:n.522-47G>C
XR_243646.4:n.558-47G>C
NM_207346.3:c.522-47G>C MANE Select	NP_997229.2:n.522-47G>C