Canonical Allele Identifier: CA216821047
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 799186
ClinVar RCV Id: RCV000982770
dbSNP Id: rs375706106
gnomAD v2: 10-135186832-G-C
gnomAD v3: 10-133373328-G-C
gnomAD v4: 10-133373328-G-C
MyVariant Identifiers: chr10:g.135186832G>C (hg19) chr10:g.133373328G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373328G>C , CM000672.2:g.133373328G>C GRCh38
NC_000010.10:g.135186832G>C , CM000672.1:g.135186832G>C GRCh37
NC_000010.9:g.135036822G>C NCBI36
NG_042077.1:g.5077C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.6C>G MANE Select ENSP00000357535.3:p.Ala2=
ENST00000368547.3:c.6C>G ENSP00000357535.3:p.Ala2=
NM_004092.3:c.6C>G NP_004083.3:p.Ala2=
XR_002956965.1:n.69C>G
NM_004092.4:c.6C>G MANE Select NP_004083.3:p.Ala2=
Search 100 bp 5'
Search 100 bp 3'