Canonical Allele Identifier: CA378824531
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373312-G-C
MyVariant Identifiers: chr10:g.135186816G>C (hg19) chr10:g.133373312G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373312G>C , CM000672.2:g.133373312G>C GRCh38
NC_000010.10:g.135186816G>C , CM000672.1:g.135186816G>C GRCh37
NC_000010.9:g.135036806G>C NCBI36
NG_042077.1:g.5093C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.22C>G MANE Select ENSP00000357535.3:p.Leu8Val
ENST00000368547.3:c.22C>G ENSP00000357535.3:p.Leu8Val
NM_004092.3:c.22C>G NP_004083.3:p.Leu8Val
XR_002956965.1:n.85C>G
NM_004092.4:c.22C>G MANE Select NP_004083.3:p.Leu8Val
Search 100 bp 5'
Search 100 bp 3'