Canonical Allele Identifier: CA5765692

Gene: ECHS1

Linked Data

• dbSNP Id: rs760615933
• ExAC: 10:135179616 T / C
• gnomAD v2: 10-135179616-T-C
• gnomAD v4: 10-133366112-T-C
• COSMIC: COSN18230669
• MyVariant Identifiers: chr10:g.135179616T>C (hg19) ; chr10:g.133366112T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366112T>C , CM000672.2:g.133366112T>C	GRCh38
NC_000010.10:g.135179616T>C , CM000672.1:g.135179616T>C	GRCh37
NC_000010.9:g.135029606T>C	NCBI36
NG_042077.1:g.12293A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.620-17A>G MANE Select	ENSP00000357535.3:n.620-17A>G
ENST00000368547.3:c.620-17A>G	ENSP00000357535.3:n.620-17A>G
NM_004092.3:c.620-17A>G	NP_004083.3:n.620-17A>G
XR_002956965.1:n.1459A>G
NM_004092.4:c.620-17A>G MANE Select	NP_004083.3:n.620-17A>G