Canonical Allele Identifier: CA2611598707
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373392-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373392G>A , CM000672.2:g.133373392G>A GRCh38
NC_000010.10:g.135186896G>A , CM000672.1:g.135186896G>A GRCh37
NC_000010.9:g.135036886G>A NCBI36
NG_042077.1:g.5013C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-59C>T ENSP00000357535.3:n.-59C>T
NM_004092.3:c.-59C>T NP_004083.3:n.-59C>T
XR_002956965.1:n.5C>T
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