Canonical Allele Identifier: CA775072404
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs1225878768
gnomAD v3: 17-75516150-C-T
gnomAD v4: 17-75516150-C-T
MyVariant Identifiers: chr17:g.73512231C>T (hg19) chr17:g.75516150C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516150C>T , CM000679.2:g.75516150C>T GRCh38
NC_000017.10:g.73512231C>T , CM000679.1:g.73512231C>T GRCh37
NC_000017.9:g.71023826C>T NCBI36
NG_013041.1:g.4623C>T
NG_033152.1:g.4434G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-319C>T ENSP00000406559.4:n.-319C>T
ENST00000679370.1:n.207C>T
ENST00000434205.7:c.-319C>T ENSP00000406559.3:n.-319C>T
XM_006721821.2:c.-484C>T XP_006721884.1:n.-484C>T
Search 100 bp 5'
Search 100 bp 3'