Canonical Allele Identifier: CA1946721196
Gene: ECHS1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-116G= ENSP00000357535.3:n.-116G=