Canonical Allele Identifier: CA378819455
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366086C>G , CM000672.2:g.133366086C>G GRCh38
NC_000010.10:g.135179590C>G , CM000672.1:g.135179590C>G GRCh37
NC_000010.9:g.135029580C>G NCBI36
NG_042077.1:g.12319G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.629G>C MANE Select ENSP00000357535.3:p.Ser210Thr
ENST00000368547.3:c.629G>C ENSP00000357535.3:p.Ser210Thr
NM_004092.3:c.629G>C NP_004083.3:p.Ser210Thr
XR_002956965.1:n.1485G>C
NM_004092.4:c.629G>C MANE Select NP_004083.3:p.Ser210Thr