Canonical Allele Identifier: CA378819468

Gene: ECHS1

Linked Data

• MyVariant Identifiers: chr10:g.135179596A>T (hg19) ; chr10:g.133366092A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366092A>T , CM000672.2:g.133366092A>T	GRCh38
NC_000010.10:g.135179596A>T , CM000672.1:g.135179596A>T	GRCh37
NC_000010.9:g.135029586A>T	NCBI36
NG_042077.1:g.12313T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.623T>A MANE Select	ENSP00000357535.3:p.Leu208His
ENST00000368547.3:c.623T>A	ENSP00000357535.3:p.Leu208His
NM_004092.3:c.623T>A	NP_004083.3:p.Leu208His
XR_002956965.1:n.1479T>A
NM_004092.4:c.623T>A MANE Select	NP_004083.3:p.Leu208His