Canonical Allele Identifier: CA5765861
Gene: ECHS1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.133370685C>T
GRCh37 chr10:g.135184189C>T
Revel Score:
ENST00000368547 (MANE Select) 0.531
gnomAD v2:
10:135184189 C / T
gnomAD v3:
10:133370685 C / T
gnomAD v4:
chr10-133370685-C-T
Joint Max Group AF 0.00002314 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.00002201 (NFE)
ClinVar RCV:
RCV000988463
RCV001567385
ClinVar Variation:
802642
dbSNP:
375266808
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133370685C>T , CM000672.2:g.133370685C>T GRCh38
NC_000010.10:g.135184189C>T , CM000672.1:g.135184189C>T GRCh37
NC_000010.9:g.135034179C>T NCBI36
NG_042077.1:g.7720G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.161G>A MANE Select ENSP00000357535.3:p.Arg54His
ENST00000368547.3:c.161G>A ENSP00000357535.3:p.Arg54His
NM_004092.3:c.161G>A NP_004083.3:p.Arg54His
XR_002956965.1:n.224G>A
NM_004092.4:c.161G>A MANE Select NP_004083.3:p.Arg54His
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