Canonical Allele Identifier: CA5765697

Gene: ECHS1

Linked Data

• dbSNP Id: rs370542093
• ExAC: 10:135179636 A / T
• gnomAD v3: 10-133366132-A-T
• gnomAD v4: 10-133366132-A-T
• MyVariant Identifiers: chr10:g.135179636A>T (hg19) ; chr10:g.133366132A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366132A>T , CM000672.2:g.133366132A>T	GRCh38
NC_000010.10:g.135179636A>T , CM000672.1:g.135179636A>T	GRCh37
NC_000010.9:g.135029626A>T	NCBI36
NG_042077.1:g.12273T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.620-37T>A MANE Select	ENSP00000357535.3:n.620-37T>A
ENST00000368547.3:c.620-37T>A	ENSP00000357535.3:n.620-37T>A
NM_004092.3:c.620-37T>A	NP_004083.3:n.620-37T>A
XR_002956965.1:n.1439T>A
NM_004092.4:c.620-37T>A MANE Select	NP_004083.3:n.620-37T>A