Canonical Allele Identifier: CA2611598692
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373383-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373383A>G , CM000672.2:g.133373383A>G GRCh38
NC_000010.10:g.135186887A>G , CM000672.1:g.135186887A>G GRCh37
NC_000010.9:g.135036877A>G NCBI36
NG_042077.1:g.5022T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-50T>C ENSP00000357535.3:n.-50T>C
NM_004092.3:c.-50T>C NP_004083.3:n.-50T>C
XR_002956965.1:n.14T>C
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