Canonical Allele Identifier: CA596744724

Gene: ECHS1

Linked Data

• dbSNP Id: rs1302161224
• gnomAD v2: 10-135186866-C-T
• gnomAD v4: 10-133373362-C-T
• MyVariant Identifiers: chr10:g.135186866C>T (hg19) ; chr10:g.133373362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133373362C>T , CM000672.2:g.133373362C>T	GRCh38
NC_000010.10:g.135186866C>T , CM000672.1:g.135186866C>T	GRCh37
NC_000010.9:g.135036856C>T	NCBI36
NG_042077.1:g.5043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.3:c.-29G>A	ENSP00000357535.3:n.-29G>A
NM_004092.3:c.-29G>A	NP_004083.3:n.-29G>A
XR_002956965.1:n.35G>A