Canonical Allele Identifier: CA1946721158
Gene: ECHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373397C= , CM000672.2:g.133373397C= GRCh38
NC_000010.10:g.135186901C= , CM000672.1:g.135186901C= GRCh37
NC_000010.9:g.135036891C= NCBI36
NG_042077.1:g.5008G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-64G= ENSP00000357535.3:n.-64G=
NM_004092.3:c.-64G= NP_004083.3:n.-64G=