Canonical Allele Identifier: CA378819398
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1589880479

Genomic Alleles

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

Transcript Alleles

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