Canonical Allele Identifier: CA378824519
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1461220479
gnomAD v2: 10-135186808-G-T
gnomAD v4: 10-133373304-G-T
MyVariant Identifiers: chr10:g.135186808G>T (hg19) chr10:g.133373304G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373304G>T , CM000672.2:g.133373304G>T GRCh38
NC_000010.10:g.135186808G>T , CM000672.1:g.135186808G>T GRCh37
NC_000010.9:g.135036798G>T NCBI36
NG_042077.1:g.5101C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.30C>A MANE Select ENSP00000357535.3:p.Cys10Ter
ENST00000368547.3:c.30C>A ENSP00000357535.3:p.Cys10Ter
NM_004092.3:c.30C>A NP_004083.3:p.Cys10Ter
XR_002956965.1:n.93C>A
NM_004092.4:c.30C>A MANE Select NP_004083.3:p.Cys10Ter
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