Canonical Allele Identifier: CA378824515
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1259157893
gnomAD v2: 10-135186807-C-A
gnomAD v4: 10-133373303-C-A
MyVariant Identifiers: chr10:g.135186807C>A (hg19) chr10:g.133373303C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373303C>A , CM000672.2:g.133373303C>A GRCh38
NC_000010.10:g.135186807C>A , CM000672.1:g.135186807C>A GRCh37
NC_000010.9:g.135036797C>A NCBI36
NG_042077.1:g.5102G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.31G>T MANE Select ENSP00000357535.3:p.Val11Phe
ENST00000368547.3:c.31G>T ENSP00000357535.3:p.Val11Phe
NM_004092.3:c.31G>T NP_004083.3:p.Val11Phe
XR_002956965.1:n.94G>T
NM_004092.4:c.31G>T MANE Select NP_004083.3:p.Val11Phe
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