Canonical Allele Identifier: CA472230226
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1674050
ClinVar RCV Id: RCV002206380
dbSNP Id: rs1258270346
gnomAD v2: 10-135186811-G-A
gnomAD v4: 10-133373307-G-A
MyVariant Identifiers: chr10:g.135186811G>A (hg19) chr10:g.133373307G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373307G>A , CM000672.2:g.133373307G>A GRCh38
NC_000010.10:g.135186811G>A , CM000672.1:g.135186811G>A GRCh37
NC_000010.9:g.135036801G>A NCBI36
NG_042077.1:g.5098C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.27C>T MANE Select ENSP00000357535.3:p.Ser9=
ENST00000368547.3:c.27C>T ENSP00000357535.3:p.Ser9=
NM_004092.3:c.27C>T NP_004083.3:p.Ser9=
XR_002956965.1:n.90C>T
NM_004092.4:c.27C>T MANE Select NP_004083.3:p.Ser9=
Search 100 bp 5'
Search 100 bp 3'