Canonical Allele Identifier: CA2611598712
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373394-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373394G>T , CM000672.2:g.133373394G>T GRCh38
NC_000010.10:g.135186898G>T , CM000672.1:g.135186898G>T GRCh37
NC_000010.9:g.135036888G>T NCBI36
NG_042077.1:g.5011C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-61C>A ENSP00000357535.3:n.-61C>A
NM_004092.3:c.-61C>A NP_004083.3:n.-61C>A
XR_002956965.1:n.3C>A
Search 100 bp 5'
Search 100 bp 3'