Canonical Allele Identifier: CA378824484
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373284G>C , CM000672.2:g.133373284G>C GRCh38
NC_000010.10:g.135186788G>C , CM000672.1:g.135186788G>C GRCh37
NC_000010.9:g.135036778G>C NCBI36
NG_042077.1:g.5121C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.50C>G MANE Select ENSP00000357535.3:p.Pro17Arg
ENST00000368547.3:c.50C>G ENSP00000357535.3:p.Pro17Arg
NM_004092.3:c.50C>G NP_004083.3:p.Pro17Arg
XR_002956965.1:n.113C>G
NM_004092.4:c.50C>G MANE Select NP_004083.3:p.Pro17Arg