Canonical Allele Identifier: CA5765915

Gene: ECHS1

Linked Data

• dbSNP Id: rs532849742
• ExAC: 10:135186812 G / A
• gnomAD v2: 10-135186812-G-A
• gnomAD v3: 10-133373308-G-A
• gnomAD v4: 10-133373308-G-A
• MyVariant Identifiers: chr10:g.135186812G>A (hg19) ; chr10:g.133373308G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133373308G>A , CM000672.2:g.133373308G>A	GRCh38
NC_000010.10:g.135186812G>A , CM000672.1:g.135186812G>A	GRCh37
NC_000010.9:g.135036802G>A	NCBI36
NG_042077.1:g.5097C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.26C>T MANE Select	ENSP00000357535.3:p.Ser9Phe
ENST00000368547.3:c.26C>T	ENSP00000357535.3:p.Ser9Phe
NM_004092.3:c.26C>T	NP_004083.3:p.Ser9Phe
XR_002956965.1:n.89C>T
NM_004092.4:c.26C>T MANE Select	NP_004083.3:p.Ser9Phe