Canonical Allele Identifier: CA1946753168

Gene: ECHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366277A= , CM000672.2:g.133366277A=	GRCh38
NC_000010.10:g.135179781A= , CM000672.1:g.135179781A=	GRCh37
NC_000010.9:g.135029771A=	NCBI36
NG_042077.1:g.12128T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.620-182T= MANE Select	ENSP00000357535.3:n.620-182T=
ENST00000368547.3:c.620-182T=	ENSP00000357535.3:n.620-182T=
NM_004092.3:c.620-182T=	NP_004083.3:n.620-182T=
XR_002956965.1:n.1294T=
NM_004092.4:c.620-182T= MANE Select	NP_004083.3:n.620-182T=