Canonical Allele Identifier: CA472230250
Gene: ECHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135186814C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373310C>G , CM000672.2:g.133373310C>G GRCh38
NC_000010.10:g.135186814C>G , CM000672.1:g.135186814C>G GRCh37
NC_000010.9:g.135036804C>G NCBI36
NG_042077.1:g.5095G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.24G>C MANE Select ENSP00000357535.3:p.Leu8=
ENST00000368547.3:c.24G>C ENSP00000357535.3:p.Leu8=
NM_004092.3:c.24G>C NP_004083.3:p.Leu8=
XR_002956965.1:n.87G>C
NM_004092.4:c.24G>C MANE Select NP_004083.3:p.Leu8=
Search 100 bp 5'
Search 100 bp 3'