Canonical Allele Identifier: CA401028173

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053425874
• gnomAD v4: 17-75521420-C-A
• MyVariant Identifiers: chr17:g.73517501C>A (hg19) ; chr17:g.75521420C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521420C>A , CM000679.2:g.75521420C>A	GRCh38
NC_000017.10:g.73517501C>A , CM000679.1:g.73517501C>A	GRCh37
NC_000017.9:g.71029096C>A	NCBI36
NG_013041.1:g.9893C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.533C>A MANE Select	ENSP00000327487.6:p.Ser178Tyr
ENST00000434205.8:c.230C>A	ENSP00000406559.4:p.Ser77Tyr
ENST00000545228.3:c.533C>A	ENSP00000438169.3:p.Ser178Tyr
ENST00000579449.2:n.332C>A
ENST00000580013.6:n.542C>A
ENST00000583818.2:c.587C>A	ENSP00000461928.2:n.587C>A
ENST00000679370.1:n.920C>A
ENST00000679429.1:c.525C>A	ENSP00000505403.1:p.Val175=
ENST00000679443.1:n.408C>A
ENST00000679782.1:c.533C>A	ENSP00000505995.1:p.Ser178Tyr
ENST00000679919.1:n.408C>A
ENST00000679928.1:c.*144C>A	ENSP00000506071.1:n.*144C>A
ENST00000680528.1:n.558C>A
ENST00000680999.1:c.533C>A	ENSP00000504984.1:p.Ser178Tyr
ENST00000681282.1:c.533C>A	ENSP00000506339.1:p.Ser178Tyr
ENST00000333213.10:c.533C>A	ENSP00000327487.6:p.Ser178Tyr
ENST00000578415.1:c.493C>A
ENST00000580013.5:n.550C>A
ENST00000583173.5:c.368C>A	ENSP00000463619.1:p.Ser123Tyr
ENST00000583818.1:c.482C>A	ENSP00000461928.1:n.482C>A
NM_207346.2:c.533C>A	NP_997229.2:p.Ser178Tyr
XM_005257229.2:c.533C>A	XP_005257286.1:p.Ser178Tyr
XM_006721821.2:c.230C>A	XP_006721884.1:p.Ser77Tyr
XM_011524616.1:c.533C>A	XP_011522918.1:p.Ser178Tyr
XM_011524617.1:c.533C>A	XP_011522919.1:p.Ser178Tyr
XM_011524618.1:c.533C>A	XP_011522920.1:p.Ser178Tyr
XR_243646.2:n.563C>A
XM_005257229.4:c.533C>A	XP_005257286.1:p.Ser178Tyr
XR_243646.4:n.569C>A
NM_207346.3:c.533C>A MANE Select	NP_997229.2:p.Ser178Tyr