Canonical Allele Identifier: CA472219560
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1578942
ClinVar RCV Id: RCV002102362
dbSNP Id: rs2133439753
MyVariant Identifiers: chr10:g.135179559T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366055T>C , CM000672.2:g.133366055T>C GRCh38
NC_000010.10:g.135179559T>C , CM000672.1:g.135179559T>C GRCh37
NC_000010.9:g.135029549T>C NCBI36
NG_042077.1:g.12350A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.660A>G MANE Select ENSP00000357535.3:p.Glu220=
ENST00000368547.3:c.660A>G ENSP00000357535.3:p.Glu220=
NM_004092.3:c.660A>G NP_004083.3:p.Glu220=
XR_002956965.1:n.1516A>G
NM_004092.4:c.660A>G MANE Select NP_004083.3:p.Glu220=
Search 100 bp 5'
Search 100 bp 3'