Canonical Allele Identifier: CA378824448
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373264A>G , CM000672.2:g.133373264A>G GRCh38
NC_000010.10:g.135186768A>G , CM000672.1:g.135186768A>G GRCh37
NC_000010.9:g.135036758A>G NCBI36
NG_042077.1:g.5141T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.70T>C MANE Select ENSP00000357535.3:p.Trp24Arg
ENST00000368547.3:c.70T>C ENSP00000357535.3:p.Trp24Arg
NM_004092.3:c.70T>C NP_004083.3:p.Trp24Arg
XR_002956965.1:n.133T>C
NM_004092.4:c.70T>C MANE Select NP_004083.3:p.Trp24Arg