Canonical Allele Identifier: CA216821212
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs531581346
gnomAD v2: 10-135186937-G-C
gnomAD v3: 10-133373433-G-C
gnomAD v4: 10-133373433-G-C
MyVariant Identifiers: chr10:g.135186937G>C (hg19) chr10:g.133373433G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373433G>C , CM000672.2:g.133373433G>C GRCh38
NC_000010.10:g.135186937G>C , CM000672.1:g.135186937G>C GRCh37
NC_000010.9:g.135036927G>C NCBI36
NG_042077.1:g.4972C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-100C>G ENSP00000357535.3:n.-100C>G
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