Canonical Allele Identifier: CA2611598672
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373369G>C , CM000672.2:g.133373369G>C GRCh38
NC_000010.10:g.135186873G>C , CM000672.1:g.135186873G>C GRCh37
NC_000010.9:g.135036863G>C NCBI36
NG_042077.1:g.5036C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-36C>G ENSP00000357535.3:n.-36C>G
NM_004092.3:c.-36C>G NP_004083.3:n.-36C>G
XR_002956965.1:n.28C>G