Canonical Allele Identifier: CA5765919
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 381881
ClinVar RCV Id: RCV000914373 RCV003912669
dbSNP Id: rs375893006
ExAC: 10:135186828 G / A
gnomAD v2: 10-135186828-G-A
gnomAD v3: 10-133373324-G-A
gnomAD v4: 10-133373324-G-A
MyVariant Identifiers: chr10:g.135186828G>A (hg19) chr10:g.133373324G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373324G>A , CM000672.2:g.133373324G>A GRCh38
NC_000010.10:g.135186828G>A , CM000672.1:g.135186828G>A GRCh37
NC_000010.9:g.135036818G>A NCBI36
NG_042077.1:g.5081C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.10C>T MANE Select ENSP00000357535.3:p.Leu4=
ENST00000368547.3:c.10C>T ENSP00000357535.3:p.Leu4=
NM_004092.3:c.10C>T NP_004083.3:p.Leu4=
XR_002956965.1:n.73C>T
NM_004092.4:c.10C>T MANE Select NP_004083.3:p.Leu4=
Search 100 bp 5'
Search 100 bp 3'