Canonical Allele Identifier: CA1946752971
Gene: ECHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366076A= , CM000672.2:g.133366076A= GRCh38
NC_000010.10:g.135179580A= , CM000672.1:g.135179580A= GRCh37
NC_000010.9:g.135029570A= NCBI36
NG_042077.1:g.12329T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.639T= MANE Select ENSP00000357535.3:p.Cys213=
ENST00000368547.3:c.639T= ENSP00000357535.3:p.Cys213=
NM_004092.3:c.639T= NP_004083.3:p.Cys213=
XR_002956965.1:n.1495T=
NM_004092.4:c.639T= MANE Select NP_004083.3:p.Cys213=
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