Canonical Allele Identifier: CA2639833821
Gene: TSEN54 HGNC NCBI

Linked Data

gnomAD v4: 17-75516249-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516249G>C , CM000679.2:g.75516249G>C GRCh38
NC_000017.10:g.73512330G>C , CM000679.1:g.73512330G>C GRCh37
NC_000017.9:g.71023925G>C NCBI36
NG_013041.1:g.4722G>C
NG_033152.1:g.4335C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-220G>C ENSP00000406559.4:n.-220G>C
ENST00000679370.1:n.306G>C
ENST00000434205.7:c.-220G>C ENSP00000406559.3:n.-220G>C
XM_006721821.2:c.-385G>C XP_006721884.1:n.-385G>C
Search 100 bp 5'
Search 100 bp 3'