Canonical Allele Identifier: CA378818458
Gene: ECHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135179495C>A (hg19) chr10:g.133365991C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365991C>A , CM000672.2:g.133365991C>A GRCh38
NC_000010.10:g.135179495C>A , CM000672.1:g.135179495C>A GRCh37
NC_000010.9:g.135029485C>A NCBI36
NG_042077.1:g.12414G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.724G>T MANE Select ENSP00000357535.3:p.Glu242Ter
ENST00000368547.3:c.724G>T ENSP00000357535.3:p.Glu242Ter
NM_004092.3:c.724G>T NP_004083.3:p.Glu242Ter
XR_002956965.1:n.1580G>T
NM_004092.4:c.724G>T MANE Select NP_004083.3:p.Glu242Ter
Search 100 bp 5'
Search 100 bp 3'