Canonical Allele Identifier: CA502045923

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2694374
• ClinVar RCV Id: RCV003544119
• dbSNP Id: rs1472785160
• gnomAD v2: 17-73517846-C-T
• gnomAD v4: 17-75521765-C-T
• MyVariant Identifiers: chr17:g.73517846C>T (hg19) ; chr17:g.75521765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521765C>T , CM000679.2:g.75521765C>T	GRCh38
NC_000017.10:g.73517846C>T , CM000679.1:g.73517846C>T	GRCh37
NC_000017.9:g.71029441C>T	NCBI36
NG_013041.1:g.10238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.684C>T MANE Select	ENSP00000327487.6:p.Ala228=
ENST00000434205.8:c.381C>T	ENSP00000406559.4:p.Ala127=
ENST00000545228.3:c.684C>T	ENSP00000438169.3:p.Ala228=
ENST00000579449.2:n.483C>T
ENST00000580013.6:n.887C>T
ENST00000583818.2:c.738C>T	ENSP00000461928.2:n.738C>T
ENST00000679370.1:n.1265C>T
ENST00000679429.1:c.*142C>T	ENSP00000505403.1:n.*142C>T
ENST00000679443.1:n.753C>T
ENST00000679782.1:c.684C>T	ENSP00000505995.1:p.Ala228=
ENST00000679919.1:n.753C>T
ENST00000679928.1:c.*295C>T	ENSP00000506071.1:n.*295C>T
ENST00000680528.1:n.709C>T
ENST00000680999.1:c.684C>T	ENSP00000504984.1:p.Ala228=
ENST00000681282.1:c.713C>T	ENSP00000506339.1:p.Pro238Leu
ENST00000333213.10:c.684C>T	ENSP00000327487.6:p.Ala228=
ENST00000578415.1:c.644C>T
ENST00000583173.5:c.459-242C>T	ENSP00000463619.1:n.459-242C>T
ENST00000583818.1:c.633C>T	ENSP00000461928.1:n.633C>T
NM_207346.2:c.684C>T	NP_997229.2:p.Ala228=
XM_005257229.2:c.684C>T	XP_005257286.1:p.Ala228=
XM_006721821.2:c.381C>T	XP_006721884.1:p.Ala127=
XM_011524616.1:c.684C>T	XP_011522918.1:p.Ala228=
XM_011524617.1:c.684C>T	XP_011522919.1:p.Ala228=
XM_011524618.1:c.684C>T	XP_011522920.1:p.Ala228=
XR_243646.2:n.714C>T
XM_005257229.4:c.684C>T	XP_005257286.1:p.Ala228=
XR_243646.4:n.720C>T
NM_207346.3:c.684C>T MANE Select	NP_997229.2:p.Ala228=