Canonical Allele Identifier: CA378818417
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365988A>T , CM000672.2:g.133365988A>T GRCh38
NC_000010.10:g.135179492A>T , CM000672.1:g.135179492A>T GRCh37
NC_000010.9:g.135029482A>T NCBI36
NG_042077.1:g.12417T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.727T>A MANE Select ENSP00000357535.3:p.Ser243Thr
ENST00000368547.3:c.727T>A ENSP00000357535.3:p.Ser243Thr
NM_004092.3:c.727T>A NP_004083.3:p.Ser243Thr
XR_002956965.1:n.1583T>A
NM_004092.4:c.727T>A MANE Select NP_004083.3:p.Ser243Thr