Canonical Allele Identifier: CA1946721027
Gene: ECHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373241C= , CM000672.2:g.133373241C= GRCh38
NC_000010.10:g.135186745C= , CM000672.1:g.135186745C= GRCh37
NC_000010.9:g.135036735C= NCBI36
NG_042077.1:g.5164G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.88+5G= MANE Select ENSP00000357535.3:n.88+5G=
ENST00000368547.3:c.88+5G= ENSP00000357535.3:n.88+5G=
NM_004092.3:c.88+5G= NP_004083.3:n.88+5G=
XR_002956965.1:n.151+5G=
NM_004092.4:c.88+5G= MANE Select NP_004083.3:n.88+5G=
Search 100 bp 5'
Search 100 bp 3'