Canonical Allele Identifier: CA2723183528
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs2133439966
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366292C>G , CM000672.2:g.133366292C>G GRCh38
NC_000010.10:g.135179796C>G , CM000672.1:g.135179796C>G GRCh37
NC_000010.9:g.135029786C>G NCBI36
NG_042077.1:g.12113G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-197G>C MANE Select ENSP00000357535.3:n.620-197G>C
ENST00000368547.3:c.620-197G>C ENSP00000357535.3:n.620-197G>C
NM_004092.3:c.620-197G>C NP_004083.3:n.620-197G>C
XR_002956965.1:n.1279G>C
NM_004092.4:c.620-197G>C MANE Select NP_004083.3:n.620-197G>C
Search 100 bp 5'
Search 100 bp 3'