Canonical Allele Identifier: CA378819436
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 802640
ClinVar RCV Id: RCV000988461
dbSNP Id: rs1589880497
MyVariant Identifiers: chr10:g.135179582A>G (hg19) chr10:g.133366078A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366078A>G , CM000672.2:g.133366078A>G GRCh38
NC_000010.10:g.135179582A>G , CM000672.1:g.135179582A>G GRCh37
NC_000010.9:g.135029572A>G NCBI36
NG_042077.1:g.12327T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.637T>C MANE Select ENSP00000357535.3:p.Cys213Arg
ENST00000368547.3:c.637T>C ENSP00000357535.3:p.Cys213Arg
NM_004092.3:c.637T>C NP_004083.3:p.Cys213Arg
XR_002956965.1:n.1493T>C
NM_004092.4:c.637T>C MANE Select NP_004083.3:p.Cys213Arg
Search 100 bp 5'
Search 100 bp 3'