Canonical Allele Identifier: CA2965071986

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521365T>C , CM000679.2:g.75521365T>C	GRCh38
NC_000017.10:g.73517446T>C , CM000679.1:g.73517446T>C	GRCh37
NC_000017.9:g.71029041T>C	NCBI36
NG_013041.1:g.9838T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.522-44T>C MANE Select	ENSP00000327487.6:n.522-44T>C
ENST00000434205.8:c.219-44T>C	ENSP00000406559.4:n.219-44T>C
ENST00000545228.3:c.522-44T>C	ENSP00000438169.3:n.522-44T>C
ENST00000579449.2:n.321-44T>C
ENST00000580013.6:n.531-44T>C
ENST00000583818.2:c.532T>C	ENSP00000461928.2:p.Ter178Arg
ENST00000679370.1:n.909-44T>C
ENST00000679429.1:c.514-44T>C	ENSP00000505403.1:n.514-44T>C
ENST00000679443.1:n.397-44T>C
ENST00000679782.1:c.522-44T>C	ENSP00000505995.1:n.522-44T>C
ENST00000679919.1:n.397-44T>C
ENST00000679928.1:c.*133-44T>C	ENSP00000506071.1:n.*133-44T>C
ENST00000680528.1:n.547-44T>C
ENST00000680999.1:c.522-44T>C	ENSP00000504984.1:n.522-44T>C
ENST00000681282.1:c.522-44T>C	ENSP00000506339.1:n.522-44T>C
ENST00000333213.10:c.522-44T>C	ENSP00000327487.6:n.522-44T>C
ENST00000578415.1:c.482-44T>C
ENST00000580013.5:n.539-44T>C
ENST00000583173.5:c.357-44T>C	ENSP00000463619.1:n.357-44T>C
ENST00000583818.1:c.427T>C	ENSP00000461928.1:p.Ter143Arg
NM_207346.2:c.522-44T>C	NP_997229.2:n.522-44T>C
XM_005257229.2:c.522-44T>C	XP_005257286.1:n.522-44T>C
XM_006721821.2:c.219-44T>C	XP_006721884.1:n.219-44T>C
XM_011524616.1:c.522-44T>C	XP_011522918.1:n.522-44T>C
XM_011524617.1:c.522-44T>C	XP_011522919.1:n.522-44T>C
XM_011524618.1:c.522-44T>C	XP_011522920.1:n.522-44T>C
XR_243646.2:n.552-44T>C
XM_005257229.4:c.522-44T>C	XP_005257286.1:n.522-44T>C
XR_243646.4:n.558-44T>C
NM_207346.3:c.522-44T>C MANE Select	NP_997229.2:n.522-44T>C