Canonical Allele Identifier: CA472229918
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1406220729

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373247C>A , CM000672.2:g.133373247C>A GRCh38
NC_000010.10:g.135186751C>A , CM000672.1:g.135186751C>A GRCh37
NC_000010.9:g.135036741C>A NCBI36
NG_042077.1:g.5158G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.87G>T MANE Select ENSP00000357535.3:p.Ser29=
ENST00000368547.3:c.87G>T ENSP00000357535.3:p.Ser29=
NM_004092.3:c.87G>T NP_004083.3:p.Ser29=
XR_002956965.1:n.150G>T
NM_004092.4:c.87G>T MANE Select NP_004083.3:p.Ser29=