Canonical Allele Identifier: CA2639835316
Gene: TSEN54 HGNC NCBI

Linked Data

gnomAD v4: 17-75516521-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516521G>T , CM000679.2:g.75516521G>T GRCh38
NC_000017.10:g.73512602G>T , CM000679.1:g.73512602G>T GRCh37
NC_000017.9:g.71024197G>T NCBI36
NG_013041.1:g.4994G>T
NG_033152.1:g.4063C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-83+135G>T ENSP00000406559.4:n.-83+135G>T
ENST00000679370.1:n.443+135G>T
ENST00000434205.7:c.-83+135G>T ENSP00000406559.3:n.-83+135G>T
XM_006721821.2:c.-248+135G>T XP_006721884.1:n.-248+135G>T
XM_005257229.4:c.-40G>T XP_005257286.1:n.-40G>T
Search 100 bp 5'
Search 100 bp 3'