Canonical Allele Identifier: CA2611598686
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373379C>G , CM000672.2:g.133373379C>G GRCh38
NC_000010.10:g.135186883C>G , CM000672.1:g.135186883C>G GRCh37
NC_000010.9:g.135036873C>G NCBI36
NG_042077.1:g.5026G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-46G>C ENSP00000357535.3:n.-46G>C
NM_004092.3:c.-46G>C NP_004083.3:n.-46G>C
XR_002956965.1:n.18G>C