Canonical Allele Identifier: CA2611598818
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373448-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373448G>C , CM000672.2:g.133373448G>C GRCh38
NC_000010.10:g.135186952G>C , CM000672.1:g.135186952G>C GRCh37
NC_000010.9:g.135036942G>C NCBI36
NG_042077.1:g.4957C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-115C>G ENSP00000357535.3:n.-115C>G
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