Canonical Allele Identifier: CA378819400

Gene: ECHS1

Linked Data

• MyVariant Identifiers: chr10:g.135179566A>C (hg19) ; chr10:g.133366062A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366062A>C , CM000672.2:g.133366062A>C	GRCh38
NC_000010.10:g.135179566A>C , CM000672.1:g.135179566A>C	GRCh37
NC_000010.9:g.135029556A>C	NCBI36
NG_042077.1:g.12343T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.653T>G MANE Select	ENSP00000357535.3:p.Leu218Arg
ENST00000368547.3:c.653T>G	ENSP00000357535.3:p.Leu218Arg
NM_004092.3:c.653T>G	NP_004083.3:p.Leu218Arg
XR_002956965.1:n.1509T>G
NM_004092.4:c.653T>G MANE Select	NP_004083.3:p.Leu218Arg