Canonical Allele Identifier: CA5765922
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1652636
ClinVar RCV Id: RCV002154545
dbSNP Id: rs375706106
ExAC: 10:135186832 G / T
gnomAD v2: 10-135186832-G-T
gnomAD v3: 10-133373328-G-T
gnomAD v4: 10-133373328-G-T
MyVariant Identifiers: chr10:g.135186832G>T (hg19) chr10:g.133373328G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373328G>T , CM000672.2:g.133373328G>T GRCh38
NC_000010.10:g.135186832G>T , CM000672.1:g.135186832G>T GRCh37
NC_000010.9:g.135036822G>T NCBI36
NG_042077.1:g.5077C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.6C>A MANE Select ENSP00000357535.3:p.Ala2=
ENST00000368547.3:c.6C>A ENSP00000357535.3:p.Ala2=
NM_004092.3:c.6C>A NP_004083.3:p.Ala2=
XR_002956965.1:n.69C>A
NM_004092.4:c.6C>A MANE Select NP_004083.3:p.Ala2=
Search 100 bp 5'
Search 100 bp 3'