Canonical Allele Identifier: CA1946721153
Gene: ECHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373384G= , CM000672.2:g.133373384G= GRCh38
NC_000010.10:g.135186888G= , CM000672.1:g.135186888G= GRCh37
NC_000010.9:g.135036878G= NCBI36
NG_042077.1:g.5021C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-51C= ENSP00000357535.3:n.-51C=
NM_004092.3:c.-51C= NP_004083.3:n.-51C=
XR_002956965.1:n.13C=