Canonical Allele Identifier: CA2639835102
Gene: TSEN54 HGNC NCBI

Linked Data

gnomAD v4: 17-75516484-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516484C>T , CM000679.2:g.75516484C>T GRCh38
NC_000017.10:g.73512565C>T , CM000679.1:g.73512565C>T GRCh37
NC_000017.9:g.71024160C>T NCBI36
NG_013041.1:g.4957C>T
NG_033152.1:g.4100G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-83+98C>T ENSP00000406559.4:n.-83+98C>T
ENST00000679370.1:n.443+98C>T
ENST00000434205.7:c.-83+98C>T ENSP00000406559.3:n.-83+98C>T
XM_006721821.2:c.-248+98C>T XP_006721884.1:n.-248+98C>T
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