Canonical Allele Identifier: CA1946752782

Gene: ECHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133365859G= , CM000672.2:g.133365859G=	GRCh38
NC_000010.10:g.135179363G= , CM000672.1:g.135179363G=	GRCh37
NC_000010.9:g.135029353G=	NCBI36
NG_042077.1:g.12546C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.739+117C= MANE Select	ENSP00000357535.3:n.739+117C=
ENST00000368547.3:c.739+117C=	ENSP00000357535.3:n.739+117C=
NM_004092.3:c.739+117C=	NP_004083.3:n.739+117C=
XR_002956965.1:n.1595+117C=
NM_004092.4:c.739+117C= MANE Select	NP_004083.3:n.739+117C=