Canonical Allele Identifier: CA1946752860
Gene: ECHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365969C= , CM000672.2:g.133365969C= GRCh38
NC_000010.10:g.135179473C= , CM000672.1:g.135179473C= GRCh37
NC_000010.9:g.135029463C= NCBI36
NG_042077.1:g.12436G=

Transcript Alleles

HGVS Amino-acid change
ENST00000368547.4:c.739+7G= MANE Select ENSP00000357535.3:n.739+7G=
ENST00000368547.3:c.739+7G= ENSP00000357535.3:n.739+7G=
NM_004092.3:c.739+7G= NP_004083.3:n.739+7G=
XR_002956965.1:n.1595+7G=
NM_004092.4:c.739+7G= MANE Select NP_004083.3:n.739+7G=
Search 100 bp 5'
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