Canonical Allele Identifier: CA2611597227
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133366209-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366209T>A , CM000672.2:g.133366209T>A GRCh38
NC_000010.10:g.135179713T>A , CM000672.1:g.135179713T>A GRCh37
NC_000010.9:g.135029703T>A NCBI36
NG_042077.1:g.12196A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-114A>T MANE Select ENSP00000357535.3:n.620-114A>T
ENST00000368547.3:c.620-114A>T ENSP00000357535.3:n.620-114A>T
NM_004092.3:c.620-114A>T NP_004083.3:n.620-114A>T
XR_002956965.1:n.1362A>T
NM_004092.4:c.620-114A>T MANE Select NP_004083.3:n.620-114A>T
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