Canonical Allele Identifier: CA309374685

Gene: TSEN34

Linked Data

• ClinVar Variation Id: 290843
• ClinVar RCV Id: RCV000311301
• dbSNP Id: rs200436138
• gnomAD v3: 19-54192170-C-A
• gnomAD v4: 19-54192170-C-A
• MyVariant Identifiers: chr19:g.54192170C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54192170C>A , CM000681.2:g.54192170C>A	GRCh38
NC_000019.8:g.59387833C>A	NCBI36
NG_015810.2:g.6936C>A
NG_033045.2:g.2706G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396388.3:c.542C>A MANE Select	ENSP00000379671.2:p.Ser181Tyr
ENST00000429671.7:c.542C>A	ENSP00000397402.4:p.Ser181Tyr
ENST00000455798.6:c.542C>A	ENSP00000400743.2:p.Ser181Tyr
ENST00000653273.2:c.521C>A	ENSP00000499319.2:p.Ser174Tyr
ENST00000665674.2:c.521C>A	ENSP00000499684.2:p.Ser174Tyr
ENST00000667261.1:c.542C>A	ENSP00000499595.1:p.Ser181Tyr
ENST00000302937.8:c.542C>A	ENSP00000305524.4:p.Ser181Tyr
ENST00000396383.5:c.542C>A	ENSP00000379667.1:p.Ser181Tyr
ENST00000396388.2:c.542C>A	ENSP00000379671.2:p.Ser181Tyr
ENST00000429671.6:c.551C>A	ENSP00000397402.3:p.Ser184Tyr
ENST00000455798.5:c.542C>A	ENSP00000400743.1:p.Ser181Tyr
ENST00000456872.5:c.551C>A	ENSP00000408689.1:p.Ser184Tyr
ENST00000496583.1:n.1677C>A
NM_001077446.3:c.542C>A	NP_001070914.1:p.Ser181Tyr
NM_001282332.1:c.542C>A	NP_001269261.1:p.Ser181Tyr
NM_001282333.1:c.551C>A	NP_001269262.1:p.Ser184Tyr
NM_024075.4:c.542C>A	NP_076980.2:p.Ser181Tyr
XM_005278290.3:c.551C>A	XP_005278347.1:p.Ser184Tyr
XM_011527294.1:c.542C>A	XP_011525596.1:p.Ser181Tyr
XM_011527295.1:c.542C>A	XP_011525597.1:p.Ser181Tyr
XM_005278290.4:c.551C>A	XP_005278347.1:p.Ser184Tyr
XM_011527294.3:c.542C>A	XP_011525596.1:p.Ser181Tyr
NM_001077446.4:c.542C>A MANE Select	NP_001070914.1:p.Ser181Tyr
NM_024075.5:c.542C>A	NP_076980.2:p.Ser181Tyr
NM_001282332.2:c.542C>A	NP_001269261.1:p.Ser181Tyr
NM_001282333.2:c.542C>A	NP_001269262.2:p.Ser181Tyr
NM_001386740.1:c.542C>A	NP_001373669.1:p.Ser181Tyr