Canonical Allele Identifier: CA1946721170
Gene: ECHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373422G= , CM000672.2:g.133373422G= GRCh38
NC_000010.10:g.135186926G= , CM000672.1:g.135186926G= GRCh37
NC_000010.9:g.135036916G= NCBI36
NG_042077.1:g.4983C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-89C= ENSP00000357535.3:n.-89C=