Canonical Allele Identifier: CA5765916
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1320265
ClinVar RCV Id: RCV001775438 RCV003718422
dbSNP Id: rs775833766
ExAC: 10:135186815 A / G
gnomAD v2: 10-135186815-A-G
gnomAD v4: 10-133373311-A-G
MyVariant Identifiers: chr10:g.135186815A>G (hg19) chr10:g.133373311A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373311A>G , CM000672.2:g.133373311A>G GRCh38
NC_000010.10:g.135186815A>G , CM000672.1:g.135186815A>G GRCh37
NC_000010.9:g.135036805A>G NCBI36
NG_042077.1:g.5094T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.23T>C MANE Select ENSP00000357535.3:p.Leu8Pro
ENST00000368547.3:c.23T>C ENSP00000357535.3:p.Leu8Pro
NM_004092.3:c.23T>C NP_004083.3:p.Leu8Pro
XR_002956965.1:n.86T>C
NM_004092.4:c.23T>C MANE Select NP_004083.3:p.Leu8Pro
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