Canonical Allele Identifier: CA378824524
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373308-G-T
MyVariant Identifiers: chr10:g.135186812G>T (hg19) chr10:g.133373308G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373308G>T , CM000672.2:g.133373308G>T GRCh38
NC_000010.10:g.135186812G>T , CM000672.1:g.135186812G>T GRCh37
NC_000010.9:g.135036802G>T NCBI36
NG_042077.1:g.5097C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.26C>A MANE Select ENSP00000357535.3:p.Ser9Tyr
ENST00000368547.3:c.26C>A ENSP00000357535.3:p.Ser9Tyr
NM_004092.3:c.26C>A NP_004083.3:p.Ser9Tyr
XR_002956965.1:n.89C>A
NM_004092.4:c.26C>A MANE Select NP_004083.3:p.Ser9Tyr
Search 100 bp 5'
Search 100 bp 3'