Canonical Allele Identifier: CA2611598733
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373407-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373407A>G , CM000672.2:g.133373407A>G GRCh38
NC_000010.10:g.135186911A>G , CM000672.1:g.135186911A>G GRCh37
NC_000010.9:g.135036901A>G NCBI36
NG_042077.1:g.4998T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-74T>C ENSP00000357535.3:n.-74T>C
Search 100 bp 5'
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