Canonical Allele Identifier: CA378818285
Gene: ECHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135179479C>T (hg19) chr10:g.133365975C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365975C>T , CM000672.2:g.133365975C>T GRCh38
NC_000010.10:g.135179479C>T , CM000672.1:g.135179479C>T GRCh37
NC_000010.9:g.135029469C>T NCBI36
NG_042077.1:g.12430G>A

Transcript Alleles

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