Canonical Allele Identifier: CA1946721183
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1849147343

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373431C>T , CM000672.2:g.133373431C>T GRCh38
NC_000010.10:g.135186935C>T , CM000672.1:g.135186935C>T GRCh37
NC_000010.9:g.135036925C>T NCBI36
NG_042077.1:g.4974G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-98G>A ENSP00000357535.3:n.-98G>A