Canonical Allele Identifier: CA5765764

Gene: ECHS1

Linked Data

• ClinVar Variation Id: 379794
• ClinVar RCV Id: RCV000432904 ; RCV000578268 ; RCV002252122
• dbSNP Id: rs375032130
• ExAC: 10:135182465 T / C
• gnomAD v2: 10-135182465-T-C
• gnomAD v3: 10-133368961-T-C
• gnomAD v4: 10-133368961-T-C
• MyVariant Identifiers: chr10:g.135182465T>C (hg19) ; chr10:g.133368961T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133368961T>C , CM000672.2:g.133368961T>C	GRCh38
NC_000010.10:g.135182465T>C , CM000672.1:g.135182465T>C	GRCh37
NC_000010.9:g.135032455T>C	NCBI36
NG_042077.1:g.9444A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.476A>G MANE Select	ENSP00000357535.3:p.Gln159Arg
ENST00000368547.3:c.476A>G	ENSP00000357535.3:p.Gln159Arg
NM_004092.3:c.476A>G	NP_004083.3:p.Gln159Arg
XR_002956965.1:n.539A>G
NM_004092.4:c.476A>G MANE Select	NP_004083.3:p.Gln159Arg