Canonical Allele Identifier: CA378819428

Gene: ECHS1

Linked Data

• MyVariant Identifiers: chr10:g.135179579G>T (hg19) ; chr10:g.133366075G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366075G>T , CM000672.2:g.133366075G>T	GRCh38
NC_000010.10:g.135179579G>T , CM000672.1:g.135179579G>T	GRCh37
NC_000010.9:g.135029569G>T	NCBI36
NG_042077.1:g.12330C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.640C>A MANE Select	ENSP00000357535.3:p.Pro214Thr
ENST00000368547.3:c.640C>A	ENSP00000357535.3:p.Pro214Thr
NM_004092.3:c.640C>A	NP_004083.3:p.Pro214Thr
XR_002956965.1:n.1496C>A
NM_004092.4:c.640C>A MANE Select	NP_004083.3:p.Pro214Thr