Canonical Allele Identifier: CA216820840
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1511505
ClinVar RCV Id: RCV002043348
dbSNP Id: rs900684601
gnomAD v2: 10-135186759-A-C
gnomAD v3: 10-133373255-A-C
gnomAD v4: 10-133373255-A-C
MyVariant Identifiers: chr10:g.135186759A>C (hg19) chr10:g.133373255A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373255A>C , CM000672.2:g.133373255A>C GRCh38
NC_000010.10:g.135186759A>C , CM000672.1:g.135186759A>C GRCh37
NC_000010.9:g.135036749A>C NCBI36
NG_042077.1:g.5150T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.79T>G MANE Select ENSP00000357535.3:p.Phe27Val
ENST00000368547.3:c.79T>G ENSP00000357535.3:p.Phe27Val
NM_004092.3:c.79T>G NP_004083.3:p.Phe27Val
XR_002956965.1:n.142T>G
NM_004092.4:c.79T>G MANE Select NP_004083.3:p.Phe27Val
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Search 100 bp 3'