Canonical Allele Identifier: CA5765895

Gene: ECHS1

Linked Data

• ClinVar Variation Id: 1450201
• ClinVar RCV Id: RCV002004789
• dbSNP Id: rs772023125
• ExAC: 10:135186756 C / A
• gnomAD v2: 10-135186756-C-A
• gnomAD v3: 10-133373252-C-A
• gnomAD v4: 10-133373252-C-A
• MyVariant Identifiers: chr10:g.135186756C>A (hg19) ; chr10:g.133373252C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133373252C>A , CM000672.2:g.133373252C>A	GRCh38
NC_000010.10:g.135186756C>A , CM000672.1:g.135186756C>A	GRCh37
NC_000010.9:g.135036746C>A	NCBI36
NG_042077.1:g.5153G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.82G>T MANE Select	ENSP00000357535.3:p.Ala28Ser
ENST00000368547.3:c.82G>T	ENSP00000357535.3:p.Ala28Ser
NM_004092.3:c.82G>T	NP_004083.3:p.Ala28Ser
XR_002956965.1:n.145G>T
NM_004092.4:c.82G>T MANE Select	NP_004083.3:p.Ala28Ser