Canonical Allele Identifier: CA2275548280
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs1215092563
gnomAD v4: 17-75516512-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516512C>A , CM000679.2:g.75516512C>A GRCh38
NC_000017.10:g.73512593C>A , CM000679.1:g.73512593C>A GRCh37
NC_000017.9:g.71024188C>A NCBI36
NG_013041.1:g.4985C>A
NG_033152.1:g.4072G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-83+126C>A ENSP00000406559.4:n.-83+126C>A
ENST00000679370.1:n.443+126C>A
ENST00000434205.7:c.-83+126C>A ENSP00000406559.3:n.-83+126C>A
XM_006721821.2:c.-248+126C>A XP_006721884.1:n.-248+126C>A
XM_005257229.4:c.-49C>A XP_005257286.1:n.-49C>A
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