Canonical Allele Identifier: CA401029173

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73517996C>A (hg19) ; chr17:g.75521915C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521915C>A , CM000679.2:g.75521915C>A	GRCh38
NC_000017.10:g.73517996C>A , CM000679.1:g.73517996C>A	GRCh37
NC_000017.9:g.71029591C>A	NCBI36
NG_013041.1:g.10388C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.834C>A MANE Select	ENSP00000327487.6:p.Ser278Arg
ENST00000434205.8:c.531C>A	ENSP00000406559.4:p.Ser177Arg
ENST00000545228.3:c.834C>A	ENSP00000438169.3:p.Ser278Arg
ENST00000579449.2:n.633C>A
ENST00000580013.6:n.1037C>A
ENST00000679370.1:n.1415C>A
ENST00000679429.1:c.*292C>A	ENSP00000505403.1:n.*292C>A
ENST00000679443.1:n.903C>A
ENST00000679782.1:c.834C>A	ENSP00000505995.1:p.Ser278Arg
ENST00000679919.1:n.903C>A
ENST00000679928.1:c.*445C>A	ENSP00000506071.1:n.*445C>A
ENST00000680528.1:n.859C>A
ENST00000680999.1:c.834C>A	ENSP00000504984.1:p.Ser278Arg
ENST00000681282.1:c.*80C>A	ENSP00000506339.1:n.*80C>A
ENST00000333213.10:c.834C>A	ENSP00000327487.6:p.Ser278Arg
ENST00000578415.1:c.794C>A
ENST00000583173.5:c.459-92C>A	ENSP00000463619.1:n.459-92C>A
NM_207346.2:c.834C>A	NP_997229.2:p.Ser278Arg
XM_005257229.2:c.834C>A	XP_005257286.1:p.Ser278Arg
XM_006721821.2:c.531C>A	XP_006721884.1:p.Ser177Arg
XM_011524616.1:c.834C>A	XP_011522918.1:p.Ser278Arg
XM_011524617.1:c.834C>A	XP_011522919.1:p.Ser278Arg
XM_011524618.1:c.834C>A	XP_011522920.1:p.Ser278Arg
XR_243646.2:n.864C>A
XM_005257229.4:c.834C>A	XP_005257286.1:p.Ser278Arg
XR_243646.4:n.870C>A
NM_207346.3:c.834C>A MANE Select	NP_997229.2:p.Ser278Arg