Canonical Allele Identifier: CA2611598783
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373434-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373434C>T , CM000672.2:g.133373434C>T GRCh38
NC_000010.10:g.135186938C>T , CM000672.1:g.135186938C>T GRCh37
NC_000010.9:g.135036928C>T NCBI36
NG_042077.1:g.4971G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-101G>A ENSP00000357535.3:n.-101G>A
Search 100 bp 5'
Search 100 bp 3'