Canonical Allele Identifier: CA2639834855
Gene: TSEN54 HGNC NCBI

Linked Data

gnomAD v4: 17-75516443-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516443T>C , CM000679.2:g.75516443T>C GRCh38
NC_000017.10:g.73512524T>C , CM000679.1:g.73512524T>C GRCh37
NC_000017.9:g.71024119T>C NCBI36
NG_013041.1:g.4916T>C
NG_033152.1:g.4141A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-83+57T>C ENSP00000406559.4:n.-83+57T>C
ENST00000679370.1:n.443+57T>C
ENST00000434205.7:c.-83+57T>C ENSP00000406559.3:n.-83+57T>C
XM_006721821.2:c.-248+57T>C XP_006721884.1:n.-248+57T>C
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