Canonical Allele Identifier: CA378818543
Gene: ECHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135179503A>G (hg19) chr10:g.133365999A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365999A>G , CM000672.2:g.133365999A>G GRCh38
NC_000010.10:g.135179503A>G , CM000672.1:g.135179503A>G GRCh37
NC_000010.9:g.135029493A>G NCBI36
NG_042077.1:g.12406T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.716T>C MANE Select ENSP00000357535.3:p.Met239Thr
ENST00000368547.3:c.716T>C ENSP00000357535.3:p.Met239Thr
NM_004092.3:c.716T>C NP_004083.3:p.Met239Thr
XR_002956965.1:n.1572T>C
NM_004092.4:c.716T>C MANE Select NP_004083.3:p.Met239Thr
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