Canonical Allele Identifier: CA1946752950
Gene: ECHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366054C= , CM000672.2:g.133366054C= GRCh38
NC_000010.10:g.135179558C= , CM000672.1:g.135179558C= GRCh37
NC_000010.9:g.135029548C= NCBI36
NG_042077.1:g.12351G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.661G= MANE Select ENSP00000357535.3:p.Glu221=
ENST00000368547.3:c.661G= ENSP00000357535.3:p.Glu221=
NM_004092.3:c.661G= NP_004083.3:p.Glu221=
XR_002956965.1:n.1517G=
NM_004092.4:c.661G= MANE Select NP_004083.3:p.Glu221=
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