Canonical Allele Identifier: CA1946721162
Gene: ECHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373405C= , CM000672.2:g.133373405C= GRCh38
NC_000010.10:g.135186909C= , CM000672.1:g.135186909C= GRCh37
NC_000010.9:g.135036899C= NCBI36
NG_042077.1:g.5000G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-72G= ENSP00000357535.3:n.-72G=