Canonical Allele Identifier: CA502045808

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73517990G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521909G>C , CM000679.2:g.75521909G>C	GRCh38
NC_000017.10:g.73517990G>C , CM000679.1:g.73517990G>C	GRCh37
NC_000017.9:g.71029585G>C	NCBI36
NG_013041.1:g.10382G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.828G>C MANE Select	ENSP00000327487.6:p.Gly276=
ENST00000434205.8:c.525G>C	ENSP00000406559.4:p.Gly175=
ENST00000545228.3:c.828G>C	ENSP00000438169.3:p.Gly276=
ENST00000579449.2:n.627G>C
ENST00000580013.6:n.1031G>C
ENST00000679370.1:n.1409G>C
ENST00000679429.1:c.*286G>C	ENSP00000505403.1:n.*286G>C
ENST00000679443.1:n.897G>C
ENST00000679782.1:c.828G>C	ENSP00000505995.1:p.Gly276=
ENST00000679919.1:n.897G>C
ENST00000679928.1:c.*439G>C	ENSP00000506071.1:n.*439G>C
ENST00000680528.1:n.853G>C
ENST00000680999.1:c.828G>C	ENSP00000504984.1:p.Gly276=
ENST00000681282.1:c.*74G>C	ENSP00000506339.1:n.*74G>C
ENST00000333213.10:c.828G>C	ENSP00000327487.6:p.Gly276=
ENST00000578415.1:c.788G>C
ENST00000583173.5:c.459-98G>C	ENSP00000463619.1:n.459-98G>C
NM_207346.2:c.828G>C	NP_997229.2:p.Gly276=
XM_005257229.2:c.828G>C	XP_005257286.1:p.Gly276=
XM_006721821.2:c.525G>C	XP_006721884.1:p.Gly175=
XM_011524616.1:c.828G>C	XP_011522918.1:p.Gly276=
XM_011524617.1:c.828G>C	XP_011522919.1:p.Gly276=
XM_011524618.1:c.828G>C	XP_011522920.1:p.Gly276=
XR_243646.2:n.858G>C
XM_005257229.4:c.828G>C	XP_005257286.1:p.Gly276=
XR_243646.4:n.864G>C
NM_207346.3:c.828G>C MANE Select	NP_997229.2:p.Gly276=