Canonical Allele Identifier: CA378824496
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373290A>C , CM000672.2:g.133373290A>C GRCh38
NC_000010.10:g.135186794A>C , CM000672.1:g.135186794A>C GRCh37
NC_000010.9:g.135036784A>C NCBI36
NG_042077.1:g.5115T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.44T>G MANE Select ENSP00000357535.3:p.Leu15Arg
ENST00000368547.3:c.44T>G ENSP00000357535.3:p.Leu15Arg
NM_004092.3:c.44T>G NP_004083.3:p.Leu15Arg
XR_002956965.1:n.107T>G
NM_004092.4:c.44T>G MANE Select NP_004083.3:p.Leu15Arg