Canonical Allele Identifier: CA2611598790
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373436-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373436C>G , CM000672.2:g.133373436C>G GRCh38
NC_000010.10:g.135186940C>G , CM000672.1:g.135186940C>G GRCh37
NC_000010.9:g.135036930C>G NCBI36
NG_042077.1:g.4969G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-103G>C ENSP00000357535.3:n.-103G>C
Search 100 bp 5'
Search 100 bp 3'