Canonical Allele Identifier: CA472218364
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2846622
ClinVar RCV Id: RCV003690386
MyVariant Identifiers: chr10:g.135179526G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366022G>A , CM000672.2:g.133366022G>A GRCh38
NC_000010.10:g.135179526G>A , CM000672.1:g.135179526G>A GRCh37
NC_000010.9:g.135029516G>A NCBI36
NG_042077.1:g.12383C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.693C>T MANE Select ENSP00000357535.3:p.Ser231=
ENST00000368547.3:c.693C>T ENSP00000357535.3:p.Ser231=
NM_004092.3:c.693C>T NP_004083.3:p.Ser231=
XR_002956965.1:n.1549C>T
NM_004092.4:c.693C>T MANE Select NP_004083.3:p.Ser231=
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