Canonical Allele Identifier: CA216821218
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs922098489
gnomAD v4: 10-133373449-C-A
MyVariant Identifiers: chr10:g.135186953C>A (hg19) chr10:g.133373449C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373449C>A , CM000672.2:g.133373449C>A GRCh38
NC_000010.10:g.135186953C>A , CM000672.1:g.135186953C>A GRCh37
NC_000010.9:g.135036943C>A NCBI36
NG_042077.1:g.4956G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-116G>T ENSP00000357535.3:n.-116G>T
Search 100 bp 5'
Search 100 bp 3'