Canonical Allele Identifier: CA2639835026
Gene: TSEN54 HGNC NCBI

Linked Data

gnomAD v4: 17-75516476-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516476T>G , CM000679.2:g.75516476T>G GRCh38
NC_000017.10:g.73512557T>G , CM000679.1:g.73512557T>G GRCh37
NC_000017.9:g.71024152T>G NCBI36
NG_013041.1:g.4949T>G
NG_033152.1:g.4108A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-83+90T>G ENSP00000406559.4:n.-83+90T>G
ENST00000679370.1:n.443+90T>G
ENST00000434205.7:c.-83+90T>G ENSP00000406559.3:n.-83+90T>G
XM_006721821.2:c.-248+90T>G XP_006721884.1:n.-248+90T>G
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