Canonical Allele Identifier: CA775072503
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs1197309337
gnomAD v4: 17-75516389-G-T
MyVariant Identifiers: chr17:g.73512470G>T (hg19) chr17:g.75516389G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516389G>T , CM000679.2:g.75516389G>T GRCh38
NC_000017.10:g.73512470G>T , CM000679.1:g.73512470G>T GRCh37
NC_000017.9:g.71024065G>T NCBI36
NG_013041.1:g.4862G>T
NG_033152.1:g.4195C>A

Transcript Alleles

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