Canonical Allele Identifier: CA2611598608
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373242-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373242T>C , CM000672.2:g.133373242T>C GRCh38
NC_000010.10:g.135186746T>C , CM000672.1:g.135186746T>C GRCh37
NC_000010.9:g.135036736T>C NCBI36
NG_042077.1:g.5163A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.88+4A>G MANE Select ENSP00000357535.3:n.88+4A>G
ENST00000368547.3:c.88+4A>G ENSP00000357535.3:n.88+4A>G
NM_004092.3:c.88+4A>G NP_004083.3:n.88+4A>G
XR_002956965.1:n.151+4A>G
NM_004092.4:c.88+4A>G MANE Select NP_004083.3:n.88+4A>G
Search 100 bp 5'
Search 100 bp 3'