Canonical Allele Identifier: CA5765845

Gene: ECHS1

Linked Data

• ClinVar Variation Id: 386290
• ClinVar RCV Id: RCV000954563 ; RCV003750791
• dbSNP Id: rs35775473
• ExAC: 10:135184110 C / T
• gnomAD v2: 10-135184110-C-T
• gnomAD v3: 10-133370606-C-T
• gnomAD v4: 10-133370606-C-T
• MyVariant Identifiers: chr10:g.135184110C>T (hg19) ; chr10:g.133370606C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133370606C>T , CM000672.2:g.133370606C>T	GRCh38
NC_000010.10:g.135184110C>T , CM000672.1:g.135184110C>T	GRCh37
NC_000010.9:g.135034100C>T	NCBI36
NG_042077.1:g.7799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.240G>A MANE Select	ENSP00000357535.3:p.Pro80=
ENST00000368547.3:c.240G>A	ENSP00000357535.3:p.Pro80=
NM_004092.3:c.240G>A	NP_004083.3:p.Pro80=
XR_002956965.1:n.303G>A
NM_004092.4:c.240G>A MANE Select	NP_004083.3:p.Pro80=