Canonical Allele Identifier: CA934176961
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs949807075
gnomAD v3: 10-133366163-G-A
gnomAD v4: 10-133366163-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366163G>A , CM000672.2:g.133366163G>A GRCh38
NC_000010.10:g.135179667G>A , CM000672.1:g.135179667G>A GRCh37
NC_000010.9:g.135029657G>A NCBI36
NG_042077.1:g.12242C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-68C>T MANE Select ENSP00000357535.3:n.620-68C>T
ENST00000368547.3:c.620-68C>T ENSP00000357535.3:n.620-68C>T
NM_004092.3:c.620-68C>T NP_004083.3:n.620-68C>T
XR_002956965.1:n.1408C>T
NM_004092.4:c.620-68C>T MANE Select NP_004083.3:n.620-68C>T
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