Canonical Allele Identifier: CA5765905
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs750839674
ExAC: 10:135186799 G / T
gnomAD v4: 10-133373295-G-T
MyVariant Identifiers: chr10:g.135186799G>T (hg19) chr10:g.133373295G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373295G>T , CM000672.2:g.133373295G>T GRCh38
NC_000010.10:g.135186799G>T , CM000672.1:g.135186799G>T GRCh37
NC_000010.9:g.135036789G>T NCBI36
NG_042077.1:g.5110C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.39C>A MANE Select ENSP00000357535.3:p.Gly13=
ENST00000368547.3:c.39C>A ENSP00000357535.3:p.Gly13=
NM_004092.3:c.39C>A NP_004083.3:p.Gly13=
XR_002956965.1:n.102C>A
NM_004092.4:c.39C>A MANE Select NP_004083.3:p.Gly13=
Search 100 bp 5'
Search 100 bp 3'