Canonical Allele Identifier: CA2611598812
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373446-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373446C>A , CM000672.2:g.133373446C>A GRCh38
NC_000010.10:g.135186950C>A , CM000672.1:g.135186950C>A GRCh37
NC_000010.9:g.135036940C>A NCBI36
NG_042077.1:g.4959G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-113G>T ENSP00000357535.3:n.-113G>T
Search 100 bp 5'
Search 100 bp 3'