Canonical Allele Identifier: CA378819433
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366077C>T , CM000672.2:g.133366077C>T GRCh38
NC_000010.10:g.135179581C>T , CM000672.1:g.135179581C>T GRCh37
NC_000010.9:g.135029571C>T NCBI36
NG_042077.1:g.12328G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.638G>A MANE Select ENSP00000357535.3:p.Cys213Tyr
ENST00000368547.3:c.638G>A ENSP00000357535.3:p.Cys213Tyr
NM_004092.3:c.638G>A NP_004083.3:p.Cys213Tyr
XR_002956965.1:n.1494G>A
NM_004092.4:c.638G>A MANE Select NP_004083.3:p.Cys213Tyr