Canonical Allele Identifier: CA278768
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 218891
ClinVar RCV Id: RCV000203246
dbSNP Id: rs864309656
COSMIC: COSM3966974
MyVariant Identifiers: chr10:g.135183409G>A (hg19) chr10:g.133369905G>A (hg38)
PubMed: PMID:26251176
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133369905G>A , CM000672.2:g.133369905G>A GRCh38
NC_000010.10:g.135183409G>A , CM000672.1:g.135183409G>A GRCh37
NC_000010.9:g.135033399G>A NCBI36
NG_042077.1:g.8500C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368547.4:c.413C>T MANE Select ENSP00000357535.3:p.Ala138Val
ENST00000368547.3:c.413C>T ENSP00000357535.3:p.Ala138Val
NM_004092.3:c.413C>T NP_004083.3:p.Ala138Val
XR_002956965.1:n.476C>T
NM_004092.4:c.413C>T MANE Select NP_004083.3:p.Ala138Val
Search 100 bp 5'
Search 100 bp 3'