Canonical Allele Identifier: CA2659556743
Gene: DYSF HGNC NCBI

Linked Data

gnomAD v4: 2-71686764-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71686764C>T , CM000664.2:g.71686764C>T GRCh38
NC_000002.11:g.71913894C>T , CM000664.1:g.71913894C>T GRCh37
NC_000002.10:g.71767402C>T NCBI36
NG_008694.1:g.238142C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258104.7:c.*272C>T ENSP00000258104.3:n.*272C>T
Search 100 bp 5'
Search 100 bp 3'