Canonical Allele Identifier: CA2611598688
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373380-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373380T>C , CM000672.2:g.133373380T>C GRCh38
NC_000010.10:g.135186884T>C , CM000672.1:g.135186884T>C GRCh37
NC_000010.9:g.135036874T>C NCBI36
NG_042077.1:g.5025A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-47A>G ENSP00000357535.3:n.-47A>G
NM_004092.3:c.-47A>G NP_004083.3:n.-47A>G
XR_002956965.1:n.17A>G
Search 100 bp 5'
Search 100 bp 3'