Canonical Allele Identifier: CA1946721161
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1849146516
gnomAD v4: 10-133373402-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373402C>A , CM000672.2:g.133373402C>A GRCh38
NC_000010.10:g.135186906C>A , CM000672.1:g.135186906C>A GRCh37
NC_000010.9:g.135036896C>A NCBI36
NG_042077.1:g.5003G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-69G>T ENSP00000357535.3:n.-69G>T
NM_004092.3:c.-69G>T NP_004083.3:n.-69G>T
Search 100 bp 5'
Search 100 bp 3'