Canonical Allele Identifier: CA5765908
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1470885
ClinVar RCV Id: RCV001964399
dbSNP Id: rs748723043
ExAC: 10:135186801 C / G
gnomAD v2: 10-135186801-C-G
gnomAD v3: 10-133373297-C-G
gnomAD v4: 10-133373297-C-G
MyVariant Identifiers: chr10:g.135186801C>G (hg19) chr10:g.133373297C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373297C>G , CM000672.2:g.133373297C>G GRCh38
NC_000010.10:g.135186801C>G , CM000672.1:g.135186801C>G GRCh37
NC_000010.9:g.135036791C>G NCBI36
NG_042077.1:g.5108G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.37G>C MANE Select ENSP00000357535.3:p.Gly13Arg
ENST00000368547.3:c.37G>C ENSP00000357535.3:p.Gly13Arg
NM_004092.3:c.37G>C NP_004083.3:p.Gly13Arg
XR_002956965.1:n.100G>C
NM_004092.4:c.37G>C MANE Select NP_004083.3:p.Gly13Arg
Search 100 bp 5'
Search 100 bp 3'