Canonical Allele Identifier: CA378824551
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373323-A-G
MyVariant Identifiers: chr10:g.135186827A>G (hg19) chr10:g.133373323A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373323A>G , CM000672.2:g.133373323A>G GRCh38
NC_000010.10:g.135186827A>G , CM000672.1:g.135186827A>G GRCh37
NC_000010.9:g.135036817A>G NCBI36
NG_042077.1:g.5082T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.11T>C MANE Select ENSP00000357535.3:p.Leu4Pro
ENST00000368547.3:c.11T>C ENSP00000357535.3:p.Leu4Pro
NM_004092.3:c.11T>C NP_004083.3:p.Leu4Pro
XR_002956965.1:n.74T>C
NM_004092.4:c.11T>C MANE Select NP_004083.3:p.Leu4Pro
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