Canonical Allele Identifier: CA1946752778

Gene: ECHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133365857A= , CM000672.2:g.133365857A=	GRCh38
NC_000010.10:g.135179361A= , CM000672.1:g.135179361A=	GRCh37
NC_000010.9:g.135029351A=	NCBI36
NG_042077.1:g.12548T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.739+119T= MANE Select	ENSP00000357535.3:n.739+119T=
ENST00000368547.3:c.739+119T=	ENSP00000357535.3:n.739+119T=
NM_004092.3:c.739+119T=	NP_004083.3:n.739+119T=
XR_002956965.1:n.1595+119T=
NM_004092.4:c.739+119T= MANE Select	NP_004083.3:n.739+119T=