Canonical Allele Identifier: CA216821176
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs996442604
gnomAD v4: 10-133373397-C-A
MyVariant Identifiers: chr10:g.135186901C>A (hg19) chr10:g.133373397C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373397C>A , CM000672.2:g.133373397C>A GRCh38
NC_000010.10:g.135186901C>A , CM000672.1:g.135186901C>A GRCh37
NC_000010.9:g.135036891C>A NCBI36
NG_042077.1:g.5008G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-64G>T ENSP00000357535.3:n.-64G>T
NM_004092.3:c.-64G>T NP_004083.3:n.-64G>T
Search 100 bp 5'
Search 100 bp 3'