Canonical Allele Identifier: CA5765897

Gene: ECHS1

Linked Data

• ClinVar Variation Id: 1183328
• ClinVar RCV Id: RCV001541147 ; RCV003492262
• dbSNP Id: rs759853219
• ExAC: 10:135186771 C / G
• gnomAD v2: 10-135186771-C-G
• gnomAD v3: 10-133373267-C-G
• gnomAD v4: 10-133373267-C-G
• MyVariant Identifiers: chr10:g.135186771C>G (hg19) ; chr10:g.133373267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133373267C>G , CM000672.2:g.133373267C>G	GRCh38
NC_000010.10:g.135186771C>G , CM000672.1:g.135186771C>G	GRCh37
NC_000010.9:g.135036761C>G	NCBI36
NG_042077.1:g.5138G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.67G>C MANE Select	ENSP00000357535.3:p.Ala23Pro
ENST00000368547.3:c.67G>C	ENSP00000357535.3:p.Ala23Pro
NM_004092.3:c.67G>C	NP_004083.3:p.Ala23Pro
XR_002956965.1:n.130G>C
NM_004092.4:c.67G>C MANE Select	NP_004083.3:p.Ala23Pro