Canonical Allele Identifier: CA1946753134

Gene: ECHS1

Linked Data

• dbSNP Id: rs1849027969

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366252T>C , CM000672.2:g.133366252T>C	GRCh38
NC_000010.10:g.135179756T>C , CM000672.1:g.135179756T>C	GRCh37
NC_000010.9:g.135029746T>C	NCBI36
NG_042077.1:g.12153A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.620-157A>G MANE Select	ENSP00000357535.3:n.620-157A>G
ENST00000368547.3:c.620-157A>G	ENSP00000357535.3:n.620-157A>G
NM_004092.3:c.620-157A>G	NP_004083.3:n.620-157A>G
XR_002956965.1:n.1319A>G
NM_004092.4:c.620-157A>G MANE Select	NP_004083.3:n.620-157A>G