Canonical Allele Identifier: CA309376268
Gene: TSEN34 HGNC NCBI

Linked Data

ClinVar Variation Id: 1637899
ClinVar RCV Id: RCV002133703
dbSNP Id: rs7595
gnomAD v3: 19-54193224-T-C
gnomAD v4: 19-54193224-T-C
MyVariant Identifiers: chr19:g.54193224T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54193224T>C , CM000681.2:g.54193224T>C GRCh38
NG_015810.2:g.7990T>C
NG_033045.2:g.1652A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000396388.3:c.795T>C MANE Select ENSP00000379671.2:p.Pro265=
ENST00000429671.7:c.795T>C ENSP00000397402.4:p.Pro265=
ENST00000455798.6:c.795T>C ENSP00000400743.2:p.Pro265=
ENST00000653273.2:c.774T>C ENSP00000499319.2:p.Pro258=
ENST00000665674.2:c.774T>C ENSP00000499684.2:p.Pro258=
ENST00000667261.1:c.795T>C ENSP00000499595.1:p.Pro265=
ENST00000302937.8:c.795T>C ENSP00000305524.4:p.Pro265=
ENST00000396383.5:c.795T>C ENSP00000379667.1:p.Pro265=
ENST00000396388.2:c.795T>C ENSP00000379671.2:p.Pro265=
ENST00000429671.6:c.804T>C ENSP00000397402.3:p.Pro268=
ENST00000496583.1:n.1930T>C
NM_001077446.3:c.795T>C NP_001070914.1:p.Pro265=
NM_001282332.1:c.795T>C NP_001269261.1:p.Pro265=
NM_001282333.1:c.804T>C NP_001269262.1:p.Pro268=
NM_024075.4:c.795T>C NP_076980.2:p.Pro265=
XM_005278290.3:c.804T>C XP_005278347.1:p.Pro268=
XM_011527294.1:c.795T>C XP_011525596.1:p.Pro265=
XM_011527295.1:c.795T>C XP_011525597.1:p.Pro265=
XM_005278290.4:c.804T>C XP_005278347.1:p.Pro268=
XM_011527294.3:c.795T>C XP_011525596.1:p.Pro265=
NM_001077446.4:c.795T>C MANE Select NP_001070914.1:p.Pro265=
NM_024075.5:c.795T>C NP_076980.2:p.Pro265=
NM_001282332.2:c.795T>C NP_001269261.1:p.Pro265=
NM_001282333.2:c.795T>C NP_001269262.2:p.Pro265=
NM_001386740.1:c.795T>C NP_001373669.1:p.Pro265=
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