Canonical Allele Identifier: CA2611598683
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373378-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373378C>G , CM000672.2:g.133373378C>G GRCh38
NC_000010.10:g.135186882C>G , CM000672.1:g.135186882C>G GRCh37
NC_000010.9:g.135036872C>G NCBI36
NG_042077.1:g.5027G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-45G>C ENSP00000357535.3:n.-45G>C
NM_004092.3:c.-45G>C NP_004083.3:n.-45G>C
XR_002956965.1:n.19G>C
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