Canonical Allele Identifier: CA2639835286
Gene: TSEN54 HGNC NCBI

Linked Data

gnomAD v4: 17-75516517-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516517G>A , CM000679.2:g.75516517G>A GRCh38
NC_000017.10:g.73512598G>A , CM000679.1:g.73512598G>A GRCh37
NC_000017.9:g.71024193G>A NCBI36
NG_013041.1:g.4990G>A
NG_033152.1:g.4067C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-83+131G>A ENSP00000406559.4:n.-83+131G>A
ENST00000679370.1:n.443+131G>A
ENST00000434205.7:c.-83+131G>A ENSP00000406559.3:n.-83+131G>A
XM_006721821.2:c.-248+131G>A XP_006721884.1:n.-248+131G>A
XM_005257229.4:c.-44G>A XP_005257286.1:n.-44G>A
Search 100 bp 5'
Search 100 bp 3'