Canonical Allele Identifier: CA216820919
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1609077
ClinVar RCV Id: RCV002150031
dbSNP Id: rs921686244
gnomAD v2: 10-135186793-C-T
gnomAD v3: 10-133373289-C-T
gnomAD v4: 10-133373289-C-T
MyVariant Identifiers: chr10:g.135186793C>T (hg19) chr10:g.133373289C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373289C>T , CM000672.2:g.133373289C>T GRCh38
NC_000010.10:g.135186793C>T , CM000672.1:g.135186793C>T GRCh37
NC_000010.9:g.135036783C>T NCBI36
NG_042077.1:g.5116G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.45G>A MANE Select ENSP00000357535.3:p.Leu15=
ENST00000368547.3:c.45G>A ENSP00000357535.3:p.Leu15=
NM_004092.3:c.45G>A NP_004083.3:p.Leu15=
XR_002956965.1:n.108G>A
NM_004092.4:c.45G>A MANE Select NP_004083.3:p.Leu15=
Search 100 bp 5'
Search 100 bp 3'