Canonical Allele Identifier: CA216821111
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs980366726
gnomAD v2: 10-135186838-G-A
gnomAD v3: 10-133373334-G-A
gnomAD v4: 10-133373334-G-A
MyVariant Identifiers: chr10:g.135186838G>A (hg19) chr10:g.133373334G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373334G>A , CM000672.2:g.133373334G>A GRCh38
NC_000010.10:g.135186838G>A , CM000672.1:g.135186838G>A GRCh37
NC_000010.9:g.135036828G>A NCBI36
NG_042077.1:g.5071C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.-1C>T MANE Select ENSP00000357535.3:n.-1C>T
ENST00000368547.3:c.-1C>T ENSP00000357535.3:n.-1C>T
NM_004092.3:c.-1C>T NP_004083.3:n.-1C>T
XR_002956965.1:n.63C>T
NM_004092.4:c.-1C>T MANE Select NP_004083.3:n.-1C>T
Search 100 bp 5'
Search 100 bp 3'