Canonical Allele Identifier: CA596744410
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1327470428
gnomAD v2: 10-135186664-A-G
gnomAD v3: 10-133373160-A-G
gnomAD v4: 10-133373160-A-G
MyVariant Identifiers: chr10:g.135186664A>G (hg19) chr10:g.135186664_135186666delinsGGG (hg19) chr10:g.133373160A>G (hg38) chr10:g.133373160_133373162delinsGGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373160A>G , CM000672.2:g.133373160A>G GRCh38
NC_000010.10:g.135186664A>G , CM000672.1:g.135186664A>G GRCh37
NC_000010.9:g.135036654A>G NCBI36
NG_042077.1:g.5245T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.88+86T>C MANE Select ENSP00000357535.3:n.88+86T>C
ENST00000368547.3:c.88+86T>C ENSP00000357535.3:n.88+86T>C
NM_004092.3:c.88+86T>C NP_004083.3:n.88+86T>C
XR_002956965.1:n.151+86T>C
NM_004092.4:c.88+86T>C MANE Select NP_004083.3:n.88+86T>C
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