Canonical Allele Identifier: CA378819315

Gene: ECHS1

Linked Data

• MyVariant Identifiers: chr10:g.135179544A>T (hg19) ; chr10:g.133366040A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366040A>T , CM000672.2:g.133366040A>T	GRCh38
NC_000010.10:g.135179544A>T , CM000672.1:g.135179544A>T	GRCh37
NC_000010.9:g.135029534A>T	NCBI36
NG_042077.1:g.12365T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.675T>A MANE Select	ENSP00000357535.3:p.Cys225Ter
ENST00000368547.3:c.675T>A	ENSP00000357535.3:p.Cys225Ter
NM_004092.3:c.675T>A	NP_004083.3:p.Cys225Ter
XR_002956965.1:n.1531T>A
NM_004092.4:c.675T>A MANE Select	NP_004083.3:p.Cys225Ter