Canonical Allele Identifier: CA472230070
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373277-A-T
MyVariant Identifiers: chr10:g.135186781A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373277A>T , CM000672.2:g.133373277A>T GRCh38
NC_000010.10:g.135186781A>T , CM000672.1:g.135186781A>T GRCh37
NC_000010.9:g.135036771A>T NCBI36
NG_042077.1:g.5128T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.57T>A MANE Select ENSP00000357535.3:p.Val19=
ENST00000368547.3:c.57T>A ENSP00000357535.3:p.Val19=
NM_004092.3:c.57T>A NP_004083.3:p.Val19=
XR_002956965.1:n.120T>A
NM_004092.4:c.57T>A MANE Select NP_004083.3:p.Val19=
Search 100 bp 5'
Search 100 bp 3'