Canonical Allele Identifier: CA1946753154

Gene: ECHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366270T= , CM000672.2:g.133366270T=	GRCh38
NC_000010.10:g.135179774T= , CM000672.1:g.135179774T=	GRCh37
NC_000010.9:g.135029764T=	NCBI36
NG_042077.1:g.12135A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.620-175A= MANE Select	ENSP00000357535.3:n.620-175A=
ENST00000368547.3:c.620-175A=	ENSP00000357535.3:n.620-175A=
NM_004092.3:c.620-175A=	NP_004083.3:n.620-175A=
XR_002956965.1:n.1301A=
NM_004092.4:c.620-175A= MANE Select	NP_004083.3:n.620-175A=