Canonical Allele Identifier: CA934177100
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1849146613
gnomAD v3: 10-133373408-C-G
gnomAD v4: 10-133373408-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373408C>G , CM000672.2:g.133373408C>G GRCh38
NC_000010.10:g.135186912C>G , CM000672.1:g.135186912C>G GRCh37
NC_000010.9:g.135036902C>G NCBI36
NG_042077.1:g.4997G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-75G>C ENSP00000357535.3:n.-75G>C
Search 100 bp 5'
Search 100 bp 3'