Canonical Allele Identifier: CA5765895
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1450201
ClinVar RCV Id: RCV002004789
dbSNP Id: rs772023125
ExAC: 10:135186756 C / A
gnomAD v2: 10-135186756-C-A
gnomAD v3: 10-133373252-C-A
gnomAD v4: 10-133373252-C-A
MyVariant Identifiers: chr10:g.135186756C>A (hg19) chr10:g.133373252C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373252C>A , CM000672.2:g.133373252C>A GRCh38
NC_000010.10:g.135186756C>A , CM000672.1:g.135186756C>A GRCh37
NC_000010.9:g.135036746C>A NCBI36
NG_042077.1:g.5153G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.82G>T MANE Select ENSP00000357535.3:p.Ala28Ser
ENST00000368547.3:c.82G>T ENSP00000357535.3:p.Ala28Ser
NM_004092.3:c.82G>T NP_004083.3:p.Ala28Ser
XR_002956965.1:n.145G>T
NM_004092.4:c.82G>T MANE Select NP_004083.3:p.Ala28Ser
Search 100 bp 5'
Search 100 bp 3'