Canonical Allele Identifier: CA472230091
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1538777
ClinVar RCV Id: RCV002162165
dbSNP Id: rs1564806265
gnomAD v4: 10-133373280-C-G
MyVariant Identifiers: chr10:g.135186784C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373280C>G , CM000672.2:g.133373280C>G GRCh38
NC_000010.10:g.135186784C>G , CM000672.1:g.135186784C>G GRCh37
NC_000010.9:g.135036774C>G NCBI36
NG_042077.1:g.5125G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.54G>C MANE Select ENSP00000357535.3:p.Pro18=
ENST00000368547.3:c.54G>C ENSP00000357535.3:p.Pro18=
NM_004092.3:c.54G>C NP_004083.3:p.Pro18=
XR_002956965.1:n.117G>C
NM_004092.4:c.54G>C MANE Select NP_004083.3:p.Pro18=
Search 100 bp 5'
Search 100 bp 3'