Canonical Allele Identifier: CA216815647
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs563323902
gnomAD v2: 10-135179671-G-A
gnomAD v3: 10-133366167-G-A
gnomAD v4: 10-133366167-G-A
MyVariant Identifiers: chr10:g.135179671G>A (hg19) chr10:g.133366167G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366167G>A , CM000672.2:g.133366167G>A GRCh38
NC_000010.10:g.135179671G>A , CM000672.1:g.135179671G>A GRCh37
NC_000010.9:g.135029661G>A NCBI36
NG_042077.1:g.12238C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-72C>T MANE Select ENSP00000357535.3:n.620-72C>T
ENST00000368547.3:c.620-72C>T ENSP00000357535.3:n.620-72C>T
NM_004092.3:c.620-72C>T NP_004083.3:n.620-72C>T
XR_002956965.1:n.1404C>T
NM_004092.4:c.620-72C>T MANE Select NP_004083.3:n.620-72C>T
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