Canonical Allele Identifier: CA2611598757
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373421C>A , CM000672.2:g.133373421C>A GRCh38
NC_000010.10:g.135186925C>A , CM000672.1:g.135186925C>A GRCh37
NC_000010.9:g.135036915C>A NCBI36
NG_042077.1:g.4984G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-88G>T ENSP00000357535.3:n.-88G>T