Canonical Allele Identifier: CA472219749
Gene: ECHS1 HGNC NCBI

Linked Data

COSMIC: COSM3978281
MyVariant Identifiers: chr10:g.135179574A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366070A>T , CM000672.2:g.133366070A>T GRCh38
NC_000010.10:g.135179574A>T , CM000672.1:g.135179574A>T GRCh37
NC_000010.9:g.135029564A>T NCBI36
NG_042077.1:g.12335T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.645T>A MANE Select ENSP00000357535.3:p.Val215=
ENST00000368547.3:c.645T>A ENSP00000357535.3:p.Val215=
NM_004092.3:c.645T>A NP_004083.3:p.Val215=
XR_002956965.1:n.1501T>A
NM_004092.4:c.645T>A MANE Select NP_004083.3:p.Val215=
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Search 100 bp 3'