Canonical Allele Identifier: CA1946721057
Gene: ECHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373288T= , CM000672.2:g.133373288T= GRCh38
NC_000010.10:g.135186792T= , CM000672.1:g.135186792T= GRCh37
NC_000010.9:g.135036782T= NCBI36
NG_042077.1:g.5117A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.46A= MANE Select ENSP00000357535.3:p.Arg16=
ENST00000368547.3:c.46A= ENSP00000357535.3:p.Arg16=
NM_004092.3:c.46A= NP_004083.3:p.Arg16=
XR_002956965.1:n.109A=
NM_004092.4:c.46A= MANE Select NP_004083.3:p.Arg16=
Search 100 bp 5'
Search 100 bp 3'