Canonical Allele Identifier: CA2574717537
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs2133445770
gnomAD v4: 10-133373390-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373390C>A , CM000672.2:g.133373390C>A GRCh38
NC_000010.10:g.135186894C>A , CM000672.1:g.135186894C>A GRCh37
NC_000010.9:g.135036884C>A NCBI36
NG_042077.1:g.5015G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-57G>T ENSP00000357535.3:n.-57G>T
NM_004092.3:c.-57G>T NP_004083.3:n.-57G>T
XR_002956965.1:n.7G>T
Search 100 bp 5'
Search 100 bp 3'