Canonical Allele Identifier: CA294075212
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs375529473
gnomAD v2: 17-73512239-G-T
gnomAD v3: 17-75516158-G-T
gnomAD v4: 17-75516158-G-T
MyVariant Identifiers: chr17:g.73512239G>T (hg19) chr17:g.75516158G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516158G>T , CM000679.2:g.75516158G>T GRCh38
NC_000017.10:g.73512239G>T , CM000679.1:g.73512239G>T GRCh37
NC_000017.9:g.71023834G>T NCBI36
NG_013041.1:g.4631G>T
NG_033152.1:g.4426C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-311G>T ENSP00000406559.4:n.-311G>T
ENST00000679370.1:n.215G>T
ENST00000434205.7:c.-311G>T ENSP00000406559.3:n.-311G>T
XM_006721821.2:c.-476G>T XP_006721884.1:n.-476G>T
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