Canonical Allele Identifier: CA596744745
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs375790796
gnomAD v2: 10-135186934-G-T
gnomAD v3: 10-133373430-G-T
gnomAD v4: 10-133373430-G-T
MyVariant Identifiers: chr10:g.135186934G>T (hg19) chr10:g.133373430G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373430G>T , CM000672.2:g.133373430G>T GRCh38
NC_000010.10:g.135186934G>T , CM000672.1:g.135186934G>T GRCh37
NC_000010.9:g.135036924G>T NCBI36
NG_042077.1:g.4975C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-97C>A ENSP00000357535.3:n.-97C>A
Search 100 bp 5'
Search 100 bp 3'