Canonical Allele Identifier: CA378824462
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1389349
ClinVar RCV Id: RCV001889199 RCV003492694
dbSNP Id: rs1436440154
gnomAD v2: 10-135186776-C-G
gnomAD v4: 10-133373272-C-G
MyVariant Identifiers: chr10:g.135186776C>G (hg19) chr10:g.133373272C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373272C>G , CM000672.2:g.133373272C>G GRCh38
NC_000010.10:g.135186776C>G , CM000672.1:g.135186776C>G GRCh37
NC_000010.9:g.135036766C>G NCBI36
NG_042077.1:g.5133G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.62G>C MANE Select ENSP00000357535.3:p.Cys21Ser
ENST00000368547.3:c.62G>C ENSP00000357535.3:p.Cys21Ser
NM_004092.3:c.62G>C NP_004083.3:p.Cys21Ser
XR_002956965.1:n.125G>C
NM_004092.4:c.62G>C MANE Select NP_004083.3:p.Cys21Ser
Search 100 bp 5'
Search 100 bp 3'