Canonical Allele Identifier: CA216821216
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs867343393
gnomAD v2: 10-135186940-C-A
gnomAD v3: 10-133373436-C-A
gnomAD v4: 10-133373436-C-A
MyVariant Identifiers: chr10:g.135186940C>A (hg19) chr10:g.133373436C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373436C>A , CM000672.2:g.133373436C>A GRCh38
NC_000010.10:g.135186940C>A , CM000672.1:g.135186940C>A GRCh37
NC_000010.9:g.135036930C>A NCBI36
NG_042077.1:g.4969G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-103G>T ENSP00000357535.3:n.-103G>T
Search 100 bp 5'
Search 100 bp 3'