Canonical Allele Identifier: CA378822093

Gene: ECHS1

Linked Data

• ClinVar Variation Id: 1699977
• ClinVar RCV Id: RCV002273917
• dbSNP Id: rs2133442721
• gnomAD v4: 10-133370033-T-C
• MyVariant Identifiers: chr10:g.135183537T>C (hg19) ; chr10:g.133370033T>C (hg38)
• MutSpliceDB: CA378822093

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133370033T>C , CM000672.2:g.133370033T>C	GRCh38
NC_000010.10:g.135183537T>C , CM000672.1:g.135183537T>C	GRCh37
NC_000010.9:g.135033527T>C	NCBI36
NG_042077.1:g.8372A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.287-2A>G MANE Select	ENSP00000357535.3:n.287-2A>G
ENST00000368547.3:c.287-2A>G	ENSP00000357535.3:n.287-2A>G
NM_004092.3:c.287-2A>G	NP_004083.3:n.287-2A>G
XR_002956965.1:n.350-2A>G
NM_004092.4:c.287-2A>G MANE Select	NP_004083.3:n.287-2A>G