Canonical Allele Identifier: CA472219886
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1191459993
COSMIC: COSM427287
MyVariant Identifiers: chr10:g.135179586C>T (hg19) chr10:g.133366082C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366082C>T , CM000672.2:g.133366082C>T GRCh38
NC_000010.10:g.135179586C>T , CM000672.1:g.135179586C>T GRCh37
NC_000010.9:g.135029576C>T NCBI36
NG_042077.1:g.12323G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.633G>A MANE Select ENSP00000357535.3:p.Lys211=
ENST00000368547.3:c.633G>A ENSP00000357535.3:p.Lys211=
NM_004092.3:c.633G>A NP_004083.3:p.Lys211=
XR_002956965.1:n.1489G>A
NM_004092.4:c.633G>A MANE Select NP_004083.3:p.Lys211=
Search 100 bp 5'
Search 100 bp 3'