Canonical Allele Identifier: CA596744742
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1339145184
gnomAD v2: 10-135186928-G-A
gnomAD v3: 10-133373424-G-A
gnomAD v4: 10-133373424-G-A
MyVariant Identifiers: chr10:g.135186928G>A (hg19) chr10:g.133373424G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373424G>A , CM000672.2:g.133373424G>A GRCh38
NC_000010.10:g.135186928G>A , CM000672.1:g.135186928G>A GRCh37
NC_000010.9:g.135036918G>A NCBI36
NG_042077.1:g.4981C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-91C>T ENSP00000357535.3:n.-91C>T
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