Canonical Allele Identifier: CA378818664

Gene: ECHS1

Linked Data

• MyVariant Identifiers: chr10:g.135179524T>G (hg19) ; chr10:g.133366020T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366020T>G , CM000672.2:g.133366020T>G	GRCh38
NC_000010.10:g.135179524T>G , CM000672.1:g.135179524T>G	GRCh37
NC_000010.9:g.135029514T>G	NCBI36
NG_042077.1:g.12385A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.695A>C MANE Select	ENSP00000357535.3:p.Asn232Thr
ENST00000368547.3:c.695A>C	ENSP00000357535.3:p.Asn232Thr
NM_004092.3:c.695A>C	NP_004083.3:p.Asn232Thr
XR_002956965.1:n.1551A>C
NM_004092.4:c.695A>C MANE Select	NP_004083.3:p.Asn232Thr