Canonical Allele Identifier: CA1946752988

Gene: ECHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366099A= , CM000672.2:g.133366099A=	GRCh38
NC_000010.10:g.135179603A= , CM000672.1:g.135179603A=	GRCh37
NC_000010.9:g.135029593A=	NCBI36
NG_042077.1:g.12306T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.620-4T= MANE Select	ENSP00000357535.3:n.620-4T=
ENST00000368547.3:c.620-4T=	ENSP00000357535.3:n.620-4T=
NM_004092.3:c.620-4T=	NP_004083.3:n.620-4T=
XR_002956965.1:n.1472T=
NM_004092.4:c.620-4T= MANE Select	NP_004083.3:n.620-4T=