Canonical Allele Identifier: CA2611597191
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133366172-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366172G>C , CM000672.2:g.133366172G>C GRCh38
NC_000010.10:g.135179676G>C , CM000672.1:g.135179676G>C GRCh37
NC_000010.9:g.135029666G>C NCBI36
NG_042077.1:g.12233C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-77C>G MANE Select ENSP00000357535.3:n.620-77C>G
ENST00000368547.3:c.620-77C>G ENSP00000357535.3:n.620-77C>G
NM_004092.3:c.620-77C>G NP_004083.3:n.620-77C>G
XR_002956965.1:n.1399C>G
NM_004092.4:c.620-77C>G MANE Select NP_004083.3:n.620-77C>G
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