Canonical Allele Identifier: CA401028630

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73517842C>T (hg19) ; chr17:g.75521761C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521761C>T , CM000679.2:g.75521761C>T	GRCh38
NC_000017.10:g.73517842C>T , CM000679.1:g.73517842C>T	GRCh37
NC_000017.9:g.71029437C>T	NCBI36
NG_013041.1:g.10234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.680C>T MANE Select	ENSP00000327487.6:p.Ala227Val
ENST00000434205.8:c.377C>T	ENSP00000406559.4:p.Ala126Val
ENST00000545228.3:c.680C>T	ENSP00000438169.3:p.Ala227Val
ENST00000579449.2:n.479C>T
ENST00000580013.6:n.883C>T
ENST00000583818.2:c.734C>T	ENSP00000461928.2:n.734C>T
ENST00000679370.1:n.1261C>T
ENST00000679429.1:c.*138C>T	ENSP00000505403.1:n.*138C>T
ENST00000679443.1:n.749C>T
ENST00000679782.1:c.680C>T	ENSP00000505995.1:p.Ala227Val
ENST00000679919.1:n.749C>T
ENST00000679928.1:c.*291C>T	ENSP00000506071.1:n.*291C>T
ENST00000680528.1:n.705C>T
ENST00000680999.1:c.680C>T	ENSP00000504984.1:p.Ala227Val
ENST00000681282.1:c.709C>T	ENSP00000506339.1:p.Gln237Ter
ENST00000333213.10:c.680C>T	ENSP00000327487.6:p.Ala227Val
ENST00000578415.1:c.640C>T
ENST00000583173.5:c.459-246C>T	ENSP00000463619.1:n.459-246C>T
ENST00000583818.1:c.629C>T	ENSP00000461928.1:n.629C>T
NM_207346.2:c.680C>T	NP_997229.2:p.Ala227Val
XM_005257229.2:c.680C>T	XP_005257286.1:p.Ala227Val
XM_006721821.2:c.377C>T	XP_006721884.1:p.Ala126Val
XM_011524616.1:c.680C>T	XP_011522918.1:p.Ala227Val
XM_011524617.1:c.680C>T	XP_011522919.1:p.Ala227Val
XM_011524618.1:c.680C>T	XP_011522920.1:p.Ala227Val
XR_243646.2:n.710C>T
XM_005257229.4:c.680C>T	XP_005257286.1:p.Ala227Val
XR_243646.4:n.716C>T
NM_207346.3:c.680C>T MANE Select	NP_997229.2:p.Ala227Val