Canonical Allele Identifier: CA378818557
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366002G>T , CM000672.2:g.133366002G>T GRCh38
NC_000010.10:g.135179506G>T , CM000672.1:g.135179506G>T GRCh37
NC_000010.9:g.135029496G>T NCBI36
NG_042077.1:g.12403C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.713C>A MANE Select ENSP00000357535.3:p.Ala238Glu
ENST00000368547.3:c.713C>A ENSP00000357535.3:p.Ala238Glu
NM_004092.3:c.713C>A NP_004083.3:p.Ala238Glu
XR_002956965.1:n.1569C>A
NM_004092.4:c.713C>A MANE Select NP_004083.3:p.Ala238Glu