Canonical Allele Identifier: CA378818721

Gene: ECHS1

Linked Data

• MyVariant Identifiers: chr10:g.135179534T>G (hg19) ; chr10:g.133366030T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366030T>G , CM000672.2:g.133366030T>G	GRCh38
NC_000010.10:g.135179534T>G , CM000672.1:g.135179534T>G	GRCh37
NC_000010.9:g.135029524T>G	NCBI36
NG_042077.1:g.12375A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.685A>C MANE Select	ENSP00000357535.3:p.Ile229Leu
ENST00000368547.3:c.685A>C	ENSP00000357535.3:p.Ile229Leu
NM_004092.3:c.685A>C	NP_004083.3:p.Ile229Leu
XR_002956965.1:n.1541A>C
NM_004092.4:c.685A>C MANE Select	NP_004083.3:p.Ile229Leu