Canonical Allele Identifier: CA661966019
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1180231558
gnomAD v3: 10-133373389-T-C
gnomAD v4: 10-133373389-T-C
MyVariant Identifiers: chr10:g.135186893T>C (hg19) chr10:g.133373389T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373389T>C , CM000672.2:g.133373389T>C GRCh38
NC_000010.10:g.135186893T>C , CM000672.1:g.135186893T>C GRCh37
NC_000010.9:g.135036883T>C NCBI36
NG_042077.1:g.5016A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-56A>G ENSP00000357535.3:n.-56A>G
NM_004092.3:c.-56A>G NP_004083.3:n.-56A>G
XR_002956965.1:n.8A>G
Search 100 bp 5'
Search 100 bp 3'