Canonical Allele Identifier: CA661966051
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1453860277
gnomAD v3: 10-133373440-C-T
gnomAD v4: 10-133373440-C-T
MyVariant Identifiers: chr10:g.135186944C>T (hg19) chr10:g.133373440C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373440C>T , CM000672.2:g.133373440C>T GRCh38
NC_000010.10:g.135186944C>T , CM000672.1:g.135186944C>T GRCh37
NC_000010.9:g.135036934C>T NCBI36
NG_042077.1:g.4965G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-107G>A ENSP00000357535.3:n.-107G>A
Search 100 bp 5'
Search 100 bp 3'