Canonical Allele Identifier: CA472218046
Gene: ECHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135179487C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365983C>A , CM000672.2:g.133365983C>A GRCh38
NC_000010.10:g.135179487C>A , CM000672.1:g.135179487C>A GRCh37
NC_000010.9:g.135029477C>A NCBI36
NG_042077.1:g.12422G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.732G>T MANE Select ENSP00000357535.3:p.Val244=
ENST00000368547.3:c.732G>T ENSP00000357535.3:p.Val244=
NM_004092.3:c.732G>T NP_004083.3:p.Val244=
XR_002956965.1:n.1588G>T
NM_004092.4:c.732G>T MANE Select NP_004083.3:p.Val244=
Search 100 bp 5'
Search 100 bp 3'