Canonical Allele Identifier: CA2574717534
Gene: ECHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373371C>A , CM000672.2:g.133373371C>A GRCh38
NC_000010.10:g.135186875C>A , CM000672.1:g.135186875C>A GRCh37
NC_000010.9:g.135036865C>A NCBI36
NG_042077.1:g.5034G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-38G>T ENSP00000357535.3:n.-38G>T
NM_004092.3:c.-38G>T NP_004083.3:n.-38G>T
XR_002956965.1:n.26G>T
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