Canonical Allele Identifier: CA378824506
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373296-C-G
MyVariant Identifiers: chr10:g.135186800C>G (hg19) chr10:g.133373296C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373296C>G , CM000672.2:g.133373296C>G GRCh38
NC_000010.10:g.135186800C>G , CM000672.1:g.135186800C>G GRCh37
NC_000010.9:g.135036790C>G NCBI36
NG_042077.1:g.5109G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.38G>C MANE Select ENSP00000357535.3:p.Gly13Ala
ENST00000368547.3:c.38G>C ENSP00000357535.3:p.Gly13Ala
NM_004092.3:c.38G>C NP_004083.3:p.Gly13Ala
XR_002956965.1:n.101G>C
NM_004092.4:c.38G>C MANE Select NP_004083.3:p.Gly13Ala
Search 100 bp 5'
Search 100 bp 3'