Canonical Allele Identifier: CA2611598644
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373349-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373349T>C , CM000672.2:g.133373349T>C GRCh38
NC_000010.10:g.135186853T>C , CM000672.1:g.135186853T>C GRCh37
NC_000010.9:g.135036843T>C NCBI36
NG_042077.1:g.5056A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.-16A>G MANE Select ENSP00000357535.3:n.-16A>G
ENST00000368547.3:c.-16A>G ENSP00000357535.3:n.-16A>G
NM_004092.3:c.-16A>G NP_004083.3:n.-16A>G
XR_002956965.1:n.48A>G
NM_004092.4:c.-16A>G MANE Select NP_004083.3:n.-16A>G
Search 100 bp 5'
Search 100 bp 3'