Canonical Allele Identifier: CA401028283

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73517550G>T (hg19) ; chr17:g.75521469G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521469G>T , CM000679.2:g.75521469G>T	GRCh38
NC_000017.10:g.73517550G>T , CM000679.1:g.73517550G>T	GRCh37
NC_000017.9:g.71029145G>T	NCBI36
NG_013041.1:g.9942G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.582G>T MANE Select	ENSP00000327487.6:p.Glu194Asp
ENST00000434205.8:c.279G>T	ENSP00000406559.4:p.Glu93Asp
ENST00000545228.3:c.582G>T	ENSP00000438169.3:p.Glu194Asp
ENST00000579449.2:n.381G>T
ENST00000580013.6:n.591G>T
ENST00000583818.2:c.636G>T	ENSP00000461928.2:n.636G>T
ENST00000679370.1:n.969G>T
ENST00000679429.1:c.*40G>T	ENSP00000505403.1:n.*40G>T
ENST00000679443.1:n.457G>T
ENST00000679782.1:c.582G>T	ENSP00000505995.1:p.Glu194Asp
ENST00000679919.1:n.457G>T
ENST00000679928.1:c.*193G>T	ENSP00000506071.1:n.*193G>T
ENST00000680528.1:n.607G>T
ENST00000680999.1:c.582G>T	ENSP00000504984.1:p.Glu194Asp
ENST00000681282.1:c.582G>T	ENSP00000506339.1:p.Glu194Asp
ENST00000333213.10:c.582G>T	ENSP00000327487.6:p.Glu194Asp
ENST00000578415.1:c.542G>T
ENST00000583173.5:c.417G>T	ENSP00000463619.1:p.Glu139Asp
ENST00000583818.1:c.531G>T	ENSP00000461928.1:n.531G>T
NM_207346.2:c.582G>T	NP_997229.2:p.Glu194Asp
XM_005257229.2:c.582G>T	XP_005257286.1:p.Glu194Asp
XM_006721821.2:c.279G>T	XP_006721884.1:p.Glu93Asp
XM_011524616.1:c.582G>T	XP_011522918.1:p.Glu194Asp
XM_011524617.1:c.582G>T	XP_011522919.1:p.Glu194Asp
XM_011524618.1:c.582G>T	XP_011522920.1:p.Glu194Asp
XR_243646.2:n.612G>T
XM_005257229.4:c.582G>T	XP_005257286.1:p.Glu194Asp
XR_243646.4:n.618G>T
NM_207346.3:c.582G>T MANE Select	NP_997229.2:p.Glu194Asp