Canonical Allele Identifier: CA294078851

Gene: TSEN54

Linked Data

• dbSNP Id: rs866996557
• MyVariant Identifiers: chr17:g.73517826C>A (hg19) ; chr17:g.75521745C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521745C>A , CM000679.2:g.75521745C>A	GRCh38
NC_000017.10:g.73517826C>A , CM000679.1:g.73517826C>A	GRCh37
NC_000017.9:g.71029421C>A	NCBI36
NG_013041.1:g.10218C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.664C>A MANE Select	ENSP00000327487.6:p.Gln222Lys
ENST00000434205.8:c.361C>A	ENSP00000406559.4:p.Gln121Lys
ENST00000545228.3:c.664C>A	ENSP00000438169.3:p.Gln222Lys
ENST00000579449.2:n.463C>A
ENST00000580013.6:n.867C>A
ENST00000583818.2:c.718C>A	ENSP00000461928.2:n.718C>A
ENST00000679370.1:n.1245C>A
ENST00000679429.1:c.*122C>A	ENSP00000505403.1:n.*122C>A
ENST00000679443.1:n.733C>A
ENST00000679782.1:c.664C>A	ENSP00000505995.1:p.Gln222Lys
ENST00000679919.1:n.733C>A
ENST00000679928.1:c.*275C>A	ENSP00000506071.1:n.*275C>A
ENST00000680528.1:n.689C>A
ENST00000680999.1:c.664C>A	ENSP00000504984.1:p.Gln222Lys
ENST00000681282.1:c.693C>A	ENSP00000506339.1:p.Cys231Ter
ENST00000333213.10:c.664C>A	ENSP00000327487.6:p.Gln222Lys
ENST00000578415.1:c.624C>A
ENST00000583173.5:c.458+235C>A	ENSP00000463619.1:n.458+235C>A
ENST00000583818.1:c.613C>A	ENSP00000461928.1:n.613C>A
NM_207346.2:c.664C>A	NP_997229.2:p.Gln222Lys
XM_005257229.2:c.664C>A	XP_005257286.1:p.Gln222Lys
XM_006721821.2:c.361C>A	XP_006721884.1:p.Gln121Lys
XM_011524616.1:c.664C>A	XP_011522918.1:p.Gln222Lys
XM_011524617.1:c.664C>A	XP_011522919.1:p.Gln222Lys
XM_011524618.1:c.664C>A	XP_011522920.1:p.Gln222Lys
XR_243646.2:n.694C>A
XM_005257229.4:c.664C>A	XP_005257286.1:p.Gln222Lys
XR_243646.4:n.700C>A
NM_207346.3:c.664C>A MANE Select	NP_997229.2:p.Gln222Lys