Canonical Allele Identifier: CA2530138713
Gene: ECHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373450C>G , CM000672.2:g.133373450C>G GRCh38
NC_000010.10:g.135186954C>G , CM000672.1:g.135186954C>G GRCh37
NC_000010.9:g.135036944C>G NCBI36
NG_042077.1:g.4955G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-117G>C ENSP00000357535.3:n.-117G>C