Canonical Allele Identifier: CA378819442
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1849023962
gnomAD v4: 10-133366081-T-C
MyVariant Identifiers: chr10:g.135179585T>C (hg19) chr10:g.133366081T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366081T>C , CM000672.2:g.133366081T>C GRCh38
NC_000010.10:g.135179585T>C , CM000672.1:g.135179585T>C GRCh37
NC_000010.9:g.135029575T>C NCBI36
NG_042077.1:g.12324A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.634A>G MANE Select ENSP00000357535.3:p.Ile212Val
ENST00000368547.3:c.634A>G ENSP00000357535.3:p.Ile212Val
NM_004092.3:c.634A>G NP_004083.3:p.Ile212Val
XR_002956965.1:n.1490A>G
NM_004092.4:c.634A>G MANE Select NP_004083.3:p.Ile212Val
Search 100 bp 5'
Search 100 bp 3'