Canonical Allele Identifier: CA378824450
Gene: ECHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135186770G>C (hg19) chr10:g.133373266G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373266G>C , CM000672.2:g.133373266G>C GRCh38
NC_000010.10:g.135186770G>C , CM000672.1:g.135186770G>C GRCh37
NC_000010.9:g.135036760G>C NCBI36
NG_042077.1:g.5139C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.68C>G MANE Select ENSP00000357535.3:p.Ala23Gly
ENST00000368547.3:c.68C>G ENSP00000357535.3:p.Ala23Gly
NM_004092.3:c.68C>G NP_004083.3:p.Ala23Gly
XR_002956965.1:n.131C>G
NM_004092.4:c.68C>G MANE Select NP_004083.3:p.Ala23Gly
Search 100 bp 5'
Search 100 bp 3'