Canonical Allele Identifier: CA339948
Gene: TSEN34 HGNC NCBI

Linked Data

ClinVar Variation Id: 2124
ClinVar RCV Id: RCV000002206
dbSNP Id: rs113994150
MyVariant Identifiers: chr19:g.54191536C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54191536C>T , CM000681.2:g.54191536C>T GRCh38
NC_000019.8:g.59387199C>T NCBI36
NG_015810.2:g.6302C>T
NG_033045.2:g.3340G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000396388.3:c.172C>T MANE Select ENSP00000379671.2:p.Arg58Trp
ENST00000429671.7:c.172C>T ENSP00000397402.4:p.Arg58Trp
ENST00000455798.6:c.172C>T ENSP00000400743.2:p.Arg58Trp
ENST00000653273.2:c.172C>T ENSP00000499319.2:p.Arg58Trp
ENST00000665674.2:c.172C>T ENSP00000499684.2:p.Arg58Trp
ENST00000667261.1:c.172C>T ENSP00000499595.1:p.Arg58Trp
ENST00000302937.8:c.172C>T ENSP00000305524.4:p.Arg58Trp
ENST00000396383.5:c.172C>T ENSP00000379667.1:p.Arg58Trp
ENST00000396388.2:c.172C>T ENSP00000379671.2:p.Arg58Trp
ENST00000429671.6:c.181C>T ENSP00000397402.3:p.Arg61Trp
ENST00000455798.5:c.172C>T ENSP00000400743.1:p.Arg58Trp
ENST00000456872.5:c.181C>T ENSP00000408689.1:p.Arg61Trp
ENST00000496583.1:n.1194C>T
NM_001077446.3:c.172C>T NP_001070914.1:p.Arg58Trp
NM_001282332.1:c.172C>T NP_001269261.1:p.Arg58Trp
NM_001282333.1:c.181C>T NP_001269262.1:p.Arg61Trp
NM_024075.4:c.172C>T NP_076980.2:p.Arg58Trp
XM_005278290.3:c.181C>T XP_005278347.1:p.Arg61Trp
XM_011527294.1:c.172C>T XP_011525596.1:p.Arg58Trp
XM_011527295.1:c.172C>T XP_011525597.1:p.Arg58Trp
XM_005278290.4:c.181C>T XP_005278347.1:p.Arg61Trp
XM_011527294.3:c.172C>T XP_011525596.1:p.Arg58Trp
NM_001077446.4:c.172C>T MANE Select NP_001070914.1:p.Arg58Trp
NM_024075.5:c.172C>T NP_076980.2:p.Arg58Trp
NM_001282332.2:c.172C>T NP_001269261.1:p.Arg58Trp
NM_001282333.2:c.172C>T NP_001269262.2:p.Arg58Trp
NM_001386740.1:c.172C>T NP_001373669.1:p.Arg58Trp