Canonical Allele Identifier: CA401028703

Gene: TSEN54

Linked Data

• dbSNP Id: rs1396049301
• gnomAD v2: 17-73517863-G-A
• gnomAD v4: 17-75521782-G-A
• MyVariant Identifiers: chr17:g.73517863G>A (hg19) ; chr17:g.75521782G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521782G>A , CM000679.2:g.75521782G>A	GRCh38
NC_000017.10:g.73517863G>A , CM000679.1:g.73517863G>A	GRCh37
NC_000017.9:g.71029458G>A	NCBI36
NG_013041.1:g.10255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.701G>A MANE Select	ENSP00000327487.6:p.Cys234Tyr
ENST00000434205.8:c.398G>A	ENSP00000406559.4:p.Cys133Tyr
ENST00000545228.3:c.701G>A	ENSP00000438169.3:p.Cys234Tyr
ENST00000579449.2:n.500G>A
ENST00000580013.6:n.904G>A
ENST00000583818.2:c.755G>A	ENSP00000461928.2:n.755G>A
ENST00000679370.1:n.1282G>A
ENST00000679429.1:c.*159G>A	ENSP00000505403.1:n.*159G>A
ENST00000679443.1:n.770G>A
ENST00000679782.1:c.701G>A	ENSP00000505995.1:p.Cys234Tyr
ENST00000679919.1:n.770G>A
ENST00000679928.1:c.*312G>A	ENSP00000506071.1:n.*312G>A
ENST00000680528.1:n.726G>A
ENST00000680999.1:c.701G>A	ENSP00000504984.1:p.Cys234Tyr
ENST00000681282.1:c.730G>A	ENSP00000506339.1:p.Ala244Thr
ENST00000333213.10:c.701G>A	ENSP00000327487.6:p.Cys234Tyr
ENST00000578415.1:c.661G>A
ENST00000583173.5:c.459-225G>A	ENSP00000463619.1:n.459-225G>A
ENST00000583818.1:c.650G>A	ENSP00000461928.1:n.650G>A
NM_207346.2:c.701G>A	NP_997229.2:p.Cys234Tyr
XM_005257229.2:c.701G>A	XP_005257286.1:p.Cys234Tyr
XM_006721821.2:c.398G>A	XP_006721884.1:p.Cys133Tyr
XM_011524616.1:c.701G>A	XP_011522918.1:p.Cys234Tyr
XM_011524617.1:c.701G>A	XP_011522919.1:p.Cys234Tyr
XM_011524618.1:c.701G>A	XP_011522920.1:p.Cys234Tyr
XR_243646.2:n.731G>A
XM_005257229.4:c.701G>A	XP_005257286.1:p.Cys234Tyr
XR_243646.4:n.737G>A
NM_207346.3:c.701G>A MANE Select	NP_997229.2:p.Cys234Tyr