Canonical Allele Identifier: CA216821202
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs890591743
gnomAD v3: 10-133373429-G-C
gnomAD v4: 10-133373429-G-C
MyVariant Identifiers: chr10:g.135186933G>C (hg19) chr10:g.133373429G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373429G>C , CM000672.2:g.133373429G>C GRCh38
NC_000010.10:g.135186933G>C , CM000672.1:g.135186933G>C GRCh37
NC_000010.9:g.135036923G>C NCBI36
NG_042077.1:g.4976C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-96C>G ENSP00000357535.3:n.-96C>G
Search 100 bp 5'
Search 100 bp 3'