Canonical Allele Identifier: CA5765678
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 972723
ClinVar RCV Id: RCV001248826 RCV001574497
dbSNP Id: rs200584793
ExAC: 10:135179506 G / A
gnomAD v2: 10-135179506-G-A
gnomAD v4: 10-133366002-G-A
COSMIC: COSM916503
MyVariant Identifiers: chr10:g.135179506G>A (hg19) chr10:g.133366002G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366002G>A , CM000672.2:g.133366002G>A GRCh38
NC_000010.10:g.135179506G>A , CM000672.1:g.135179506G>A GRCh37
NC_000010.9:g.135029496G>A NCBI36
NG_042077.1:g.12403C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.713C>T MANE Select ENSP00000357535.3:p.Ala238Val
ENST00000368547.3:c.713C>T ENSP00000357535.3:p.Ala238Val
NM_004092.3:c.713C>T NP_004083.3:p.Ala238Val
XR_002956965.1:n.1569C>T
NM_004092.4:c.713C>T MANE Select NP_004083.3:p.Ala238Val
Search 100 bp 5'
Search 100 bp 3'