Canonical Allele Identifier: CA1946753155

Gene: ECHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366271C= , CM000672.2:g.133366271C=	GRCh38
NC_000010.10:g.135179775C= , CM000672.1:g.135179775C=	GRCh37
NC_000010.9:g.135029765C=	NCBI36
NG_042077.1:g.12134G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.620-176G= MANE Select	ENSP00000357535.3:n.620-176G=
ENST00000368547.3:c.620-176G=	ENSP00000357535.3:n.620-176G=
NM_004092.3:c.620-176G=	NP_004083.3:n.620-176G=
XR_002956965.1:n.1300G=
NM_004092.4:c.620-176G= MANE Select	NP_004083.3:n.620-176G=