Canonical Allele Identifier: CA1946721086
Gene: ECHS1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373319A= , CM000672.2:g.133373319A= GRCh38
NC_000010.10:g.135186823A= , CM000672.1:g.135186823A= GRCh37
NC_000010.9:g.135036813A= NCBI36
NG_042077.1:g.5086T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.15T= MANE Select ENSP00000357535.3:p.Arg5=
ENST00000368547.3:c.15T= ENSP00000357535.3:p.Arg5=
NM_004092.3:c.15T= NP_004083.3:p.Arg5=
XR_002956965.1:n.78T=
NM_004092.4:c.15T= MANE Select NP_004083.3:p.Arg5=
Search 100 bp 5'
Search 100 bp 3'