Canonical Allele Identifier: CA661966057
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1337677513
gnomAD v3: 10-133373443-G-T
gnomAD v4: 10-133373443-G-T
MyVariant Identifiers: chr10:g.135186947G>T (hg19) chr10:g.133373443G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373443G>T , CM000672.2:g.133373443G>T GRCh38
NC_000010.10:g.135186947G>T , CM000672.1:g.135186947G>T GRCh37
NC_000010.9:g.135036937G>T NCBI36
NG_042077.1:g.4962C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-110C>A ENSP00000357535.3:n.-110C>A
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