Canonical Allele Identifier: CA378824423
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373252-C-T
MyVariant Identifiers: chr10:g.135186756C>T (hg19) chr10:g.133373252C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373252C>T , CM000672.2:g.133373252C>T GRCh38
NC_000010.10:g.135186756C>T , CM000672.1:g.135186756C>T GRCh37
NC_000010.9:g.135036746C>T NCBI36
NG_042077.1:g.5153G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.82G>A MANE Select ENSP00000357535.3:p.Ala28Thr
ENST00000368547.3:c.82G>A ENSP00000357535.3:p.Ala28Thr
NM_004092.3:c.82G>A NP_004083.3:p.Ala28Thr
XR_002956965.1:n.145G>A
NM_004092.4:c.82G>A MANE Select NP_004083.3:p.Ala28Thr
Search 100 bp 5'
Search 100 bp 3'