Canonical Allele Identifier: CA378824546
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373320-C-A
MyVariant Identifiers: chr10:g.135186824C>A (hg19) chr10:g.133373320C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373320C>A , CM000672.2:g.133373320C>A GRCh38
NC_000010.10:g.135186824C>A , CM000672.1:g.135186824C>A GRCh37
NC_000010.9:g.135036814C>A NCBI36
NG_042077.1:g.5085G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.14G>T MANE Select ENSP00000357535.3:p.Arg5Leu
ENST00000368547.3:c.14G>T ENSP00000357535.3:p.Arg5Leu
NM_004092.3:c.14G>T NP_004083.3:p.Arg5Leu
XR_002956965.1:n.77G>T
NM_004092.4:c.14G>T MANE Select NP_004083.3:p.Arg5Leu
Search 100 bp 5'
Search 100 bp 3'