Canonical Allele Identifier: CA216821135
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1002931828
gnomAD v2: 10-135186865-G-C
gnomAD v3: 10-133373361-G-C
gnomAD v4: 10-133373361-G-C
MyVariant Identifiers: chr10:g.135186865G>C (hg19) chr10:g.133373361G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373361G>C , CM000672.2:g.133373361G>C GRCh38
NC_000010.10:g.135186865G>C , CM000672.1:g.135186865G>C GRCh37
NC_000010.9:g.135036855G>C NCBI36
NG_042077.1:g.5044C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-28C>G ENSP00000357535.3:n.-28C>G
NM_004092.3:c.-28C>G NP_004083.3:n.-28C>G
XR_002956965.1:n.36C>G
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