Canonical Allele Identifier: CA596744655

Gene: ECHS1

Linked Data

• dbSNP Id: rs1416180701
• gnomAD v2: 10-135186736-C-T
• gnomAD v3: 10-133373232-C-T
• gnomAD v4: 10-133373232-C-T
• MyVariant Identifiers: chr10:g.135186736C>T (hg19) ; chr10:g.133373232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133373232C>T , CM000672.2:g.133373232C>T	GRCh38
NC_000010.10:g.135186736C>T , CM000672.1:g.135186736C>T	GRCh37
NC_000010.9:g.135036726C>T	NCBI36
NG_042077.1:g.5173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.88+14G>A MANE Select	ENSP00000357535.3:n.88+14G>A
ENST00000368547.3:c.88+14G>A	ENSP00000357535.3:n.88+14G>A
NM_004092.3:c.88+14G>A	NP_004083.3:n.88+14G>A
XR_002956965.1:n.151+14G>A
NM_004092.4:c.88+14G>A MANE Select	NP_004083.3:n.88+14G>A