Canonical Allele Identifier: CA2574717373

Gene: ECHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133365964C>G , CM000672.2:g.133365964C>G	GRCh38
NC_000010.10:g.135179468C>G , CM000672.1:g.135179468C>G	GRCh37
NC_000010.9:g.135029458C>G	NCBI36
NG_042077.1:g.12441G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368547.4:c.739+12G>C MANE Select	ENSP00000357535.3:n.739+12G>C
ENST00000368547.3:c.739+12G>C	ENSP00000357535.3:n.739+12G>C
NM_004092.3:c.739+12G>C	NP_004083.3:n.739+12G>C
XR_002956965.1:n.1595+12G>C
NM_004092.4:c.739+12G>C MANE Select	NP_004083.3:n.739+12G>C