Canonical Allele Identifier: CA401028155

Gene: TSEN54

Linked Data

• dbSNP Id: rs1598476984
• MyVariant Identifiers: chr17:g.73517491T>G (hg19) ; chr17:g.75521410T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521410T>G , CM000679.2:g.75521410T>G	GRCh38
NC_000017.10:g.73517491T>G , CM000679.1:g.73517491T>G	GRCh37
NC_000017.9:g.71029086T>G	NCBI36
NG_013041.1:g.9883T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.523T>G MANE Select	ENSP00000327487.6:p.Ser175Ala
ENST00000434205.8:c.220T>G	ENSP00000406559.4:p.Ser74Ala
ENST00000545228.3:c.523T>G	ENSP00000438169.3:p.Ser175Ala
ENST00000579449.2:n.322T>G
ENST00000580013.6:n.532T>G
ENST00000583818.2:c.577T>G	ENSP00000461928.2:n.577T>G
ENST00000679370.1:n.910T>G
ENST00000679429.1:c.515T>G	ENSP00000505403.1:p.Leu172Arg
ENST00000679443.1:n.398T>G
ENST00000679782.1:c.523T>G	ENSP00000505995.1:p.Ser175Ala
ENST00000679919.1:n.398T>G
ENST00000679928.1:c.*134T>G	ENSP00000506071.1:n.*134T>G
ENST00000680528.1:n.548T>G
ENST00000680999.1:c.523T>G	ENSP00000504984.1:p.Ser175Ala
ENST00000681282.1:c.523T>G	ENSP00000506339.1:p.Ser175Ala
ENST00000333213.10:c.523T>G	ENSP00000327487.6:p.Ser175Ala
ENST00000578415.1:c.483T>G
ENST00000580013.5:n.540T>G
ENST00000583173.5:c.358T>G	ENSP00000463619.1:p.Ser120Ala
ENST00000583818.1:c.472T>G	ENSP00000461928.1:n.472T>G
NM_207346.2:c.523T>G	NP_997229.2:p.Ser175Ala
XM_005257229.2:c.523T>G	XP_005257286.1:p.Ser175Ala
XM_006721821.2:c.220T>G	XP_006721884.1:p.Ser74Ala
XM_011524616.1:c.523T>G	XP_011522918.1:p.Ser175Ala
XM_011524617.1:c.523T>G	XP_011522919.1:p.Ser175Ala
XM_011524618.1:c.523T>G	XP_011522920.1:p.Ser175Ala
XR_243646.2:n.553T>G
XM_005257229.4:c.523T>G	XP_005257286.1:p.Ser175Ala
XR_243646.4:n.559T>G
NM_207346.3:c.523T>G MANE Select	NP_997229.2:p.Ser175Ala