Canonical Allele Identifier: CA216815679
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs888444170
gnomAD v3: 10-133366231-G-A
gnomAD v4: 10-133366231-G-A
MyVariant Identifiers: chr10:g.135179735G>A (hg19) chr10:g.133366231G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366231G>A , CM000672.2:g.133366231G>A GRCh38
NC_000010.10:g.135179735G>A , CM000672.1:g.135179735G>A GRCh37
NC_000010.9:g.135029725G>A NCBI36
NG_042077.1:g.12174C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-136C>T MANE Select ENSP00000357535.3:n.620-136C>T
ENST00000368547.3:c.620-136C>T ENSP00000357535.3:n.620-136C>T
NM_004092.3:c.620-136C>T NP_004083.3:n.620-136C>T
XR_002956965.1:n.1340C>T
NM_004092.4:c.620-136C>T MANE Select NP_004083.3:n.620-136C>T
Search 100 bp 5'
Search 100 bp 3'