Canonical Allele Identifier: CA2639833485
Gene: TSEN54 HGNC NCBI

Linked Data

gnomAD v4: 17-75516121-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516121G>T , CM000679.2:g.75516121G>T GRCh38
NC_000017.10:g.73512202G>T , CM000679.1:g.73512202G>T GRCh37
NC_000017.9:g.71023797G>T NCBI36
NG_013041.1:g.4594G>T
NG_033152.1:g.4463C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-348G>T ENSP00000406559.4:n.-348G>T
ENST00000679370.1:n.178G>T
ENST00000434205.7:c.-348G>T ENSP00000406559.3:n.-348G>T
XM_006721821.2:c.-513G>T XP_006721884.1:n.-513G>T
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