Canonical Allele Identifier: CA1946721169
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1849146858
gnomAD v4: 10-133373421-C-T
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-88G>A ENSP00000357535.3:n.-88G>A
Search 100 bp 5'
Search 100 bp 3'