Canonical Allele Identifier: CA472219743
Gene: ECHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135179574A>C (hg19)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.645T>G MANE Select ENSP00000357535.3:p.Val215=
ENST00000368547.3:c.645T>G ENSP00000357535.3:p.Val215=
NM_004092.3:c.645T>G NP_004083.3:p.Val215=
XR_002956965.1:n.1501T>G
NM_004092.4:c.645T>G MANE Select NP_004083.3:p.Val215=
Search 100 bp 5'
Search 100 bp 3'