Canonical Allele Identifier: CA1946753136
Gene: ECHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366254C= , CM000672.2:g.133366254C= GRCh38
NC_000010.10:g.135179758C= , CM000672.1:g.135179758C= GRCh37
NC_000010.9:g.135029748C= NCBI36
NG_042077.1:g.12151G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-159G= MANE Select ENSP00000357535.3:n.620-159G=
ENST00000368547.3:c.620-159G= ENSP00000357535.3:n.620-159G=
NM_004092.3:c.620-159G= NP_004083.3:n.620-159G=
XR_002956965.1:n.1317G=
NM_004092.4:c.620-159G= MANE Select NP_004083.3:n.620-159G=