Canonical Allele Identifier: CA8764255

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 1554743
• ClinVar RCV Id: RCV002199715 ; RCV003893154
• dbSNP Id: rs372368367
• ExAC: 17:73517882 C / T
• gnomAD v2: 17-73517882-C-T
• gnomAD v3: 17-75521801-C-T
• gnomAD v4: 17-75521801-C-T
• MyVariant Identifiers: chr17:g.73517882C>T (hg19) ; chr17:g.75521801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521801C>T , CM000679.2:g.75521801C>T	GRCh38
NC_000017.10:g.73517882C>T , CM000679.1:g.73517882C>T	GRCh37
NC_000017.9:g.71029477C>T	NCBI36
NG_013041.1:g.10274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.720C>T MANE Select	ENSP00000327487.6:p.Cys240=
ENST00000434205.8:c.417C>T	ENSP00000406559.4:p.Cys139=
ENST00000545228.3:c.720C>T	ENSP00000438169.3:p.Cys240=
ENST00000579449.2:n.519C>T
ENST00000580013.6:n.923C>T
ENST00000583818.2:c.774C>T	ENSP00000461928.2:n.774C>T
ENST00000679370.1:n.1301C>T
ENST00000679429.1:c.*178C>T	ENSP00000505403.1:n.*178C>T
ENST00000679443.1:n.789C>T
ENST00000679782.1:c.720C>T	ENSP00000505995.1:p.Cys240=
ENST00000679919.1:n.789C>T
ENST00000679928.1:c.*331C>T	ENSP00000506071.1:n.*331C>T
ENST00000680528.1:n.745C>T
ENST00000680999.1:c.720C>T	ENSP00000504984.1:p.Cys240=
ENST00000681282.1:c.749C>T	ENSP00000506339.1:p.Ala250Val
ENST00000333213.10:c.720C>T	ENSP00000327487.6:p.Cys240=
ENST00000578415.1:c.680C>T
ENST00000583173.5:c.459-206C>T	ENSP00000463619.1:n.459-206C>T
ENST00000583818.1:c.669C>T	ENSP00000461928.1:n.669C>T
NM_207346.2:c.720C>T	NP_997229.2:p.Cys240=
XM_005257229.2:c.720C>T	XP_005257286.1:p.Cys240=
XM_006721821.2:c.417C>T	XP_006721884.1:p.Cys139=
XM_011524616.1:c.720C>T	XP_011522918.1:p.Cys240=
XM_011524617.1:c.720C>T	XP_011522919.1:p.Cys240=
XM_011524618.1:c.720C>T	XP_011522920.1:p.Cys240=
XR_243646.2:n.750C>T
XM_005257229.4:c.720C>T	XP_005257286.1:p.Cys240=
XR_243646.4:n.756C>T
NM_207346.3:c.720C>T MANE Select	NP_997229.2:p.Cys240=