Canonical Allele Identifier: CA1946753048
Gene: ECHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366178G= , CM000672.2:g.133366178G= GRCh38
NC_000010.10:g.135179682G= , CM000672.1:g.135179682G= GRCh37
NC_000010.9:g.135029672G= NCBI36
NG_042077.1:g.12227C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-83C= MANE Select ENSP00000357535.3:n.620-83C=
ENST00000368547.3:c.620-83C= ENSP00000357535.3:n.620-83C=
NM_004092.3:c.620-83C= NP_004083.3:n.620-83C=
XR_002956965.1:n.1393C=
NM_004092.4:c.620-83C= MANE Select NP_004083.3:n.620-83C=