Canonical Allele Identifier: CA2589251616
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs2133439960
gnomAD v3: 10-133366286-A-G
gnomAD v4: 10-133366286-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366286A>G , CM000672.2:g.133366286A>G GRCh38
NC_000010.10:g.135179790A>G , CM000672.1:g.135179790A>G GRCh37
NC_000010.9:g.135029780A>G NCBI36
NG_042077.1:g.12119T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-191T>C MANE Select ENSP00000357535.3:n.620-191T>C
ENST00000368547.3:c.620-191T>C ENSP00000357535.3:n.620-191T>C
NM_004092.3:c.620-191T>C NP_004083.3:n.620-191T>C
XR_002956965.1:n.1285T>C
NM_004092.4:c.620-191T>C MANE Select NP_004083.3:n.620-191T>C
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