Canonical Allele Identifier: CA1946721195
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1849147799
gnomAD v4: 10-133373448-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373448G>T , CM000672.2:g.133373448G>T GRCh38
NC_000010.10:g.135186952G>T , CM000672.1:g.135186952G>T GRCh37
NC_000010.9:g.135036942G>T NCBI36
NG_042077.1:g.4957C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-115C>A ENSP00000357535.3:n.-115C>A
Search 100 bp 5'
Search 100 bp 3'