Canonical Allele Identifier: CA627405758
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs918500103
gnomAD v2: 17-73512426-C-G
gnomAD v3: 17-75516345-C-G
gnomAD v4: 17-75516345-C-G
MyVariant Identifiers: chr17:g.73512426C>G (hg19) chr17:g.75516345C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516345C>G , CM000679.2:g.75516345C>G GRCh38
NC_000017.10:g.73512426C>G , CM000679.1:g.73512426C>G GRCh37
NC_000017.9:g.71024021C>G NCBI36
NG_013041.1:g.4818C>G
NG_033152.1:g.4239G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-124C>G ENSP00000406559.4:n.-124C>G
ENST00000679370.1:n.402C>G
ENST00000434205.7:c.-124C>G ENSP00000406559.3:n.-124C>G
XM_006721821.2:c.-289C>G XP_006721884.1:n.-289C>G
Search 100 bp 5'
Search 100 bp 3'