Canonical Allele Identifier: CA401028152

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053425831
• gnomAD v3: 17-75521409-C-G
• gnomAD v4: 17-75521409-C-G
• MyVariant Identifiers: chr17:g.73517490C>G (hg19) ; chr17:g.75521409C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521409C>G , CM000679.2:g.75521409C>G	GRCh38
NC_000017.10:g.73517490C>G , CM000679.1:g.73517490C>G	GRCh37
NC_000017.9:g.71029085C>G	NCBI36
NG_013041.1:g.9882C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.522C>G MANE Select	ENSP00000327487.6:p.Ser174Arg
ENST00000434205.8:c.219C>G	ENSP00000406559.4:p.Ser73Arg
ENST00000545228.3:c.522C>G	ENSP00000438169.3:p.Ser174Arg
ENST00000579449.2:n.321C>G
ENST00000580013.6:n.531C>G
ENST00000583818.2:c.576C>G	ENSP00000461928.2:n.576C>G
ENST00000679370.1:n.909C>G
ENST00000679429.1:c.514C>G	ENSP00000505403.1:p.Leu172Val
ENST00000679443.1:n.397C>G
ENST00000679782.1:c.522C>G	ENSP00000505995.1:p.Ser174Arg
ENST00000679919.1:n.397C>G
ENST00000679928.1:c.*133C>G	ENSP00000506071.1:n.*133C>G
ENST00000680528.1:n.547C>G
ENST00000680999.1:c.522C>G	ENSP00000504984.1:p.Ser174Arg
ENST00000681282.1:c.522C>G	ENSP00000506339.1:p.Ser174Arg
ENST00000333213.10:c.522C>G	ENSP00000327487.6:p.Ser174Arg
ENST00000578415.1:c.482C>G
ENST00000580013.5:n.539C>G
ENST00000583173.5:c.357C>G	ENSP00000463619.1:p.Ser119Arg
ENST00000583818.1:c.471C>G	ENSP00000461928.1:n.471C>G
NM_207346.2:c.522C>G	NP_997229.2:p.Ser174Arg
XM_005257229.2:c.522C>G	XP_005257286.1:p.Ser174Arg
XM_006721821.2:c.219C>G	XP_006721884.1:p.Ser73Arg
XM_011524616.1:c.522C>G	XP_011522918.1:p.Ser174Arg
XM_011524617.1:c.522C>G	XP_011522919.1:p.Ser174Arg
XM_011524618.1:c.522C>G	XP_011522920.1:p.Ser174Arg
XR_243646.2:n.552C>G
XM_005257229.4:c.522C>G	XP_005257286.1:p.Ser174Arg
XR_243646.4:n.558C>G
NM_207346.3:c.522C>G MANE Select	NP_997229.2:p.Ser174Arg