Canonical Allele Identifier: CA2639833442
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs2147003737
gnomAD v4: 17-75516095-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516095G>T , CM000679.2:g.75516095G>T GRCh38
NC_000017.10:g.73512176G>T , CM000679.1:g.73512176G>T GRCh37
NC_000017.9:g.71023771G>T NCBI36
NG_013041.1:g.4568G>T
NG_033152.1:g.4489C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-374G>T ENSP00000406559.4:n.-374G>T
ENST00000679370.1:n.152G>T
ENST00000434205.7:c.-374G>T ENSP00000406559.3:n.-374G>T
XM_006721821.2:c.-539G>T XP_006721884.1:n.-539G>T
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