Canonical Allele Identifier: CA16043008
Gene: TSEN54 HGNC NCBI

Linked Data

ClinVar Variation Id: 372660
ClinVar RCV Id: RCV000413093
dbSNP Id: rs1057517911
MyVariant Identifiers: chr17:g.73515128G>A (hg19) chr17:g.75519047G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75519047G>A , CM000679.2:g.75519047G>A GRCh38
NC_000017.10:g.73515128G>A , CM000679.1:g.73515128G>A GRCh37
NC_000017.9:g.71026723G>A NCBI36
NG_013041.1:g.7520G>A
NG_033152.1:g.1537C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000333213.11:c.521G>A MANE Select ENSP00000327487.6:p.Ser174Asn
ENST00000434205.8:c.218G>A ENSP00000406559.4:p.Ser73Asn
ENST00000545228.3:c.521G>A ENSP00000438169.3:p.Ser174Asn
ENST00000579449.2:n.320G>A
ENST00000580013.6:n.530G>A
ENST00000583818.2:c.521G>A ENSP00000461928.2:p.Arg174Lys
ENST00000679370.1:n.908G>A
ENST00000679429.1:c.513G>A ENSP00000505403.1:p.Lys171=
ENST00000679443.1:n.396G>A
ENST00000679782.1:c.521G>A ENSP00000505995.1:p.Ser174Asn
ENST00000679919.1:n.396G>A
ENST00000679928.1:c.521G>A ENSP00000506071.1:p.Ser174Asn
ENST00000680528.1:n.546G>A
ENST00000680999.1:c.521G>A ENSP00000504984.1:p.Ser174Asn
ENST00000681282.1:c.521G>A ENSP00000506339.1:p.Ser174Asn
ENST00000333213.10:c.521G>A ENSP00000327487.6:p.Ser174Asn
ENST00000434205.7:c.218G>A
ENST00000578415.1:c.481G>A
ENST00000580013.5:n.538G>A
ENST00000583173.5:c.356G>A ENSP00000463619.1:p.Ser119Asn
ENST00000583818.1:c.416G>A ENSP00000461928.1:p.Arg139Lys
NM_207346.2:c.521G>A NP_997229.2:p.Ser174Asn
XM_005257229.2:c.521G>A XP_005257286.1:p.Ser174Asn
XM_006721821.2:c.218G>A XP_006721884.1:p.Ser73Asn
XM_011524616.1:c.521G>A XP_011522918.1:p.Ser174Asn
XM_011524617.1:c.521G>A XP_011522919.1:p.Ser174Asn
XM_011524618.1:c.521G>A XP_011522920.1:p.Ser174Asn
XR_243646.2:n.551G>A
XM_005257229.4:c.521G>A XP_005257286.1:p.Ser174Asn
XR_243646.4:n.557G>A
NM_207346.3:c.521G>A MANE Select NP_997229.2:p.Ser174Asn
Search 100 bp 5'
Search 100 bp 3'