Canonical Allele Identifier: CA378824445
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373263-C-G
MyVariant Identifiers: chr10:g.135186767C>G (hg19) chr10:g.133373263C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373263C>G , CM000672.2:g.133373263C>G GRCh38
NC_000010.10:g.135186767C>G , CM000672.1:g.135186767C>G GRCh37
NC_000010.9:g.135036757C>G NCBI36
NG_042077.1:g.5142G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.71G>C MANE Select ENSP00000357535.3:p.Trp24Ser
ENST00000368547.3:c.71G>C ENSP00000357535.3:p.Trp24Ser
NM_004092.3:c.71G>C NP_004083.3:p.Trp24Ser
XR_002956965.1:n.134G>C
NM_004092.4:c.71G>C MANE Select NP_004083.3:p.Trp24Ser
Search 100 bp 5'
Search 100 bp 3'