Canonical Allele Identifier: CA5765696

Gene: ECHS1

Linked Data

• dbSNP Id: rs758504744
• ExAC: 10:135179634 A / C
• gnomAD v2: 10-135179634-A-C
• gnomAD v3: 10-133366130-A-C
• gnomAD v4: 10-133366130-A-C
• MyVariant Identifiers: chr10:g.135179634A>C (hg19) ; chr10:g.133366130A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366130A>C , CM000672.2:g.133366130A>C	GRCh38
NC_000010.10:g.135179634A>C , CM000672.1:g.135179634A>C	GRCh37
NC_000010.9:g.135029624A>C	NCBI36
NG_042077.1:g.12275T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.620-35T>G MANE Select	ENSP00000357535.3:n.620-35T>G
ENST00000368547.3:c.620-35T>G	ENSP00000357535.3:n.620-35T>G
NM_004092.3:c.620-35T>G	NP_004083.3:n.620-35T>G
XR_002956965.1:n.1441T>G
NM_004092.4:c.620-35T>G MANE Select	NP_004083.3:n.620-35T>G