Canonical Allele Identifier: CA1946721192
Gene: ECHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373447A= , CM000672.2:g.133373447A= GRCh38
NC_000010.10:g.135186951A= , CM000672.1:g.135186951A= GRCh37
NC_000010.9:g.135036941A= NCBI36
NG_042077.1:g.4958T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-114T= ENSP00000357535.3:n.-114T=