Canonical Allele Identifier: CA1946752978
Gene: ECHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366081T= , CM000672.2:g.133366081T= GRCh38
NC_000010.10:g.135179585T= , CM000672.1:g.135179585T= GRCh37
NC_000010.9:g.135029575T= NCBI36
NG_042077.1:g.12324A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.634A= MANE Select ENSP00000357535.3:p.Ile212=
ENST00000368547.3:c.634A= ENSP00000357535.3:p.Ile212=
NM_004092.3:c.634A= NP_004083.3:p.Ile212=
XR_002956965.1:n.1490A=
NM_004092.4:c.634A= MANE Select NP_004083.3:p.Ile212=
Search 100 bp 5'
Search 100 bp 3'