Canonical Allele Identifier: CA378819431
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366077C>A , CM000672.2:g.133366077C>A GRCh38
NC_000010.10:g.135179581C>A , CM000672.1:g.135179581C>A GRCh37
NC_000010.9:g.135029571C>A NCBI36
NG_042077.1:g.12328G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.638G>T MANE Select ENSP00000357535.3:p.Cys213Phe
ENST00000368547.3:c.638G>T ENSP00000357535.3:p.Cys213Phe
NM_004092.3:c.638G>T NP_004083.3:p.Cys213Phe
XR_002956965.1:n.1494G>T
NM_004092.4:c.638G>T MANE Select NP_004083.3:p.Cys213Phe