Canonical Allele Identifier: CA5765913

Gene: ECHS1

Linked Data

• ClinVar Variation Id: 1255366
• ClinVar RCV Id: RCV001661261 ; RCV001713670
• dbSNP Id: rs10466126
• ExAC: 10:135186806 A / G
• gnomAD v2: 10-135186806-A-G
• gnomAD v3: 10-133373302-A-G
• gnomAD v4: 10-133373302-A-G
• MyVariant Identifiers: chr10:g.135186806A>G (hg19) ; chr10:g.133373302A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133373302A>G , CM000672.2:g.133373302A>G	GRCh38
NC_000010.10:g.135186806A>G , CM000672.1:g.135186806A>G	GRCh37
NC_000010.9:g.135036796A>G	NCBI36
NG_042077.1:g.5103T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.32T>C MANE Select	ENSP00000357535.3:p.Val11Ala
ENST00000368547.3:c.32T>C	ENSP00000357535.3:p.Val11Ala
NM_004092.3:c.32T>C	NP_004083.3:p.Val11Ala
XR_002956965.1:n.95T>C
NM_004092.4:c.32T>C MANE Select	NP_004083.3:p.Val11Ala