Canonical Allele Identifier: CA214804
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 156433
ClinVar RCV Id: RCV000144496 RCV000167581 RCV002515942
dbSNP Id: rs587776497
gnomAD v4: 10-133373332-A-C
MyVariant Identifiers: chr10:g.135186836A>C (hg19) chr10:g.133373332A>C (hg38)
PubMed: PMID:25393721
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373332A>C , CM000672.2:g.133373332A>C GRCh38
NC_000010.10:g.135186836A>C , CM000672.1:g.135186836A>C GRCh37
NC_000010.9:g.135036826A>C NCBI36
NG_042077.1:g.5073T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.2T>G MANE Select ENSP00000357535.3:p.Met1Arg
ENST00000368547.3:c.2T>G ENSP00000357535.3:p.Met1Arg
NM_004092.3:c.2T>G NP_004083.3:p.Met1Arg
XR_002956965.1:n.65T>G
NM_004092.4:c.2T>G MANE Select NP_004083.3:p.Met1Arg
Search 100 bp 5'
Search 100 bp 3'