Canonical Allele Identifier: CA13300577
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 683765
ClinVar RCV Id: RCV000843948
dbSNP Id: rs6537599
gnomAD v2: 10-135179777-C-T
gnomAD v3: 10-133366273-C-T
gnomAD v4: 10-133366273-C-T
MyVariant Identifiers: chr10:g.135179777C>T (hg19) chr10:g.133366273C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366273C>T , CM000672.2:g.133366273C>T GRCh38
NC_000010.10:g.135179777C>T , CM000672.1:g.135179777C>T GRCh37
NC_000010.9:g.135029767C>T NCBI36
NG_042077.1:g.12132G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-178G>A MANE Select ENSP00000357535.3:n.620-178G>A
ENST00000368547.3:c.620-178G>A ENSP00000357535.3:n.620-178G>A
NM_004092.3:c.620-178G>A NP_004083.3:n.620-178G>A
XR_002956965.1:n.1298G>A
NM_004092.4:c.620-178G>A MANE Select NP_004083.3:n.620-178G>A
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