Canonical Allele Identifier: CA2639833497
Gene: TSEN54 HGNC NCBI

Linked Data

gnomAD v4: 17-75516124-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516124T>G , CM000679.2:g.75516124T>G GRCh38
NC_000017.10:g.73512205T>G , CM000679.1:g.73512205T>G GRCh37
NC_000017.9:g.71023800T>G NCBI36
NG_013041.1:g.4597T>G
NG_033152.1:g.4460A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-345T>G ENSP00000406559.4:n.-345T>G
ENST00000679370.1:n.181T>G
ENST00000434205.7:c.-345T>G ENSP00000406559.3:n.-345T>G
XM_006721821.2:c.-510T>G XP_006721884.1:n.-510T>G
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