Canonical Allele Identifier: CA1946753145

Gene: ECHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366263T= , CM000672.2:g.133366263T=	GRCh38
NC_000010.10:g.135179767T= , CM000672.1:g.135179767T=	GRCh37
NC_000010.9:g.135029757T=	NCBI36
NG_042077.1:g.12142A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.620-168A= MANE Select	ENSP00000357535.3:n.620-168A=
ENST00000368547.3:c.620-168A=	ENSP00000357535.3:n.620-168A=
NM_004092.3:c.620-168A=	NP_004083.3:n.620-168A=
XR_002956965.1:n.1308A=
NM_004092.4:c.620-168A= MANE Select	NP_004083.3:n.620-168A=