Canonical Allele Identifier: CA775072423
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs1445985435
gnomAD v4: 17-75516200-G-A
MyVariant Identifiers: chr17:g.73512281G>A (hg19) chr17:g.75516200G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516200G>A , CM000679.2:g.75516200G>A GRCh38
NC_000017.10:g.73512281G>A , CM000679.1:g.73512281G>A GRCh37
NC_000017.9:g.71023876G>A NCBI36
NG_013041.1:g.4673G>A
NG_033152.1:g.4384C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-269G>A ENSP00000406559.4:n.-269G>A
ENST00000679370.1:n.257G>A
ENST00000434205.7:c.-269G>A ENSP00000406559.3:n.-269G>A
XM_006721821.2:c.-434G>A XP_006721884.1:n.-434G>A
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