Canonical Allele Identifier: CA472219927
Gene: ECHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135179592G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366088G>A , CM000672.2:g.133366088G>A GRCh38
NC_000010.10:g.135179592G>A , CM000672.1:g.135179592G>A GRCh37
NC_000010.9:g.135029582G>A NCBI36
NG_042077.1:g.12317C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.627C>T MANE Select ENSP00000357535.3:p.Val209=
ENST00000368547.3:c.627C>T ENSP00000357535.3:p.Val209=
NM_004092.3:c.627C>T NP_004083.3:p.Val209=
XR_002956965.1:n.1483C>T
NM_004092.4:c.627C>T MANE Select NP_004083.3:p.Val209=