Canonical Allele Identifier: CA378824474
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373278-A-G
MyVariant Identifiers: chr10:g.135186782A>G (hg19) chr10:g.133373278A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373278A>G , CM000672.2:g.133373278A>G GRCh38
NC_000010.10:g.135186782A>G , CM000672.1:g.135186782A>G GRCh37
NC_000010.9:g.135036772A>G NCBI36
NG_042077.1:g.5127T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.56T>C MANE Select ENSP00000357535.3:p.Val19Ala
ENST00000368547.3:c.56T>C ENSP00000357535.3:p.Val19Ala
NM_004092.3:c.56T>C NP_004083.3:p.Val19Ala
XR_002956965.1:n.119T>C
NM_004092.4:c.56T>C MANE Select NP_004083.3:p.Val19Ala
Search 100 bp 5'
Search 100 bp 3'