Canonical Allele Identifier: CA2790080247
Gene: ECHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373437T>C , CM000672.2:g.133373437T>C GRCh38
NC_000010.10:g.135186941T>C , CM000672.1:g.135186941T>C GRCh37
NC_000010.9:g.135036931T>C NCBI36
NG_042077.1:g.4968A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-104A>G ENSP00000357535.3:n.-104A>G