Canonical Allele Identifier: CA378819399
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366060C>A , CM000672.2:g.133366060C>A GRCh38
NC_000010.10:g.135179564C>A , CM000672.1:g.135179564C>A GRCh37
NC_000010.9:g.135029554C>A NCBI36
NG_042077.1:g.12345G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.655G>T MANE Select ENSP00000357535.3:p.Val219Leu
ENST00000368547.3:c.655G>T ENSP00000357535.3:p.Val219Leu
NM_004092.3:c.655G>T NP_004083.3:p.Val219Leu
XR_002956965.1:n.1511G>T
NM_004092.4:c.655G>T MANE Select NP_004083.3:p.Val219Leu