Canonical Allele Identifier: CA1946721052
Gene: ECHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373281G= , CM000672.2:g.133373281G= GRCh38
NC_000010.10:g.135186785G= , CM000672.1:g.135186785G= GRCh37
NC_000010.9:g.135036775G= NCBI36
NG_042077.1:g.5124C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.53C= MANE Select ENSP00000357535.3:p.Pro18=
ENST00000368547.3:c.53C= ENSP00000357535.3:p.Pro18=
NM_004092.3:c.53C= NP_004083.3:p.Pro18=
XR_002956965.1:n.116C=
NM_004092.4:c.53C= MANE Select NP_004083.3:p.Pro18=
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