Canonical Allele Identifier: CA2611598804
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373441-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373441G>A , CM000672.2:g.133373441G>A GRCh38
NC_000010.10:g.135186945G>A , CM000672.1:g.135186945G>A GRCh37
NC_000010.9:g.135036935G>A NCBI36
NG_042077.1:g.4964C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-108C>T ENSP00000357535.3:n.-108C>T
Search 100 bp 5'
Search 100 bp 3'