Canonical Allele Identifier: CA378819449

Gene: ECHS1

Linked Data

• MyVariant Identifiers: chr10:g.135179588T>A (hg19) ; chr10:g.133366084T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366084T>A , CM000672.2:g.133366084T>A	GRCh38
NC_000010.10:g.135179588T>A , CM000672.1:g.135179588T>A	GRCh37
NC_000010.9:g.135029578T>A	NCBI36
NG_042077.1:g.12321A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.631A>T MANE Select	ENSP00000357535.3:p.Lys211Ter
ENST00000368547.3:c.631A>T	ENSP00000357535.3:p.Lys211Ter
NM_004092.3:c.631A>T	NP_004083.3:p.Lys211Ter
XR_002956965.1:n.1487A>T
NM_004092.4:c.631A>T MANE Select	NP_004083.3:p.Lys211Ter