Canonical Allele Identifier: CA378824492
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373287C>T , CM000672.2:g.133373287C>T GRCh38
NC_000010.10:g.135186791C>T , CM000672.1:g.135186791C>T GRCh37
NC_000010.9:g.135036781C>T NCBI36
NG_042077.1:g.5118G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.47G>A MANE Select ENSP00000357535.3:p.Arg16Lys
ENST00000368547.3:c.47G>A ENSP00000357535.3:p.Arg16Lys
NM_004092.3:c.47G>A NP_004083.3:p.Arg16Lys
XR_002956965.1:n.110G>A
NM_004092.4:c.47G>A MANE Select NP_004083.3:p.Arg16Lys