Canonical Allele Identifier: CA2639834347
Gene: TSEN54 HGNC NCBI

Linked Data

gnomAD v4: 17-75516344-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516344T>C , CM000679.2:g.75516344T>C GRCh38
NC_000017.10:g.73512425T>C , CM000679.1:g.73512425T>C GRCh37
NC_000017.9:g.71024020T>C NCBI36
NG_013041.1:g.4817T>C
NG_033152.1:g.4240A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-125T>C ENSP00000406559.4:n.-125T>C
ENST00000679370.1:n.401T>C
ENST00000434205.7:c.-125T>C ENSP00000406559.3:n.-125T>C
XM_006721821.2:c.-290T>C XP_006721884.1:n.-290T>C
Search 100 bp 5'
Search 100 bp 3'