Canonical Allele Identifier: CA472218307
Gene: ECHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135179520A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366016A>G , CM000672.2:g.133366016A>G GRCh38
NC_000010.10:g.135179520A>G , CM000672.1:g.135179520A>G GRCh37
NC_000010.9:g.135029510A>G NCBI36
NG_042077.1:g.12389T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.699T>C MANE Select ENSP00000357535.3:p.Ser233=
ENST00000368547.3:c.699T>C ENSP00000357535.3:p.Ser233=
NM_004092.3:c.699T>C NP_004083.3:p.Ser233=
XR_002956965.1:n.1555T>C
NM_004092.4:c.699T>C MANE Select NP_004083.3:p.Ser233=
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