Canonical Allele Identifier: CA216820881
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1352310
ClinVar RCV Id: RCV002047505
dbSNP Id: rs377287845
gnomAD v2: 10-135186773-G-A
gnomAD v4: 10-133373269-G-A
MyVariant Identifiers: chr10:g.135186773G>A (hg19) chr10:g.133373269G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373269G>A , CM000672.2:g.133373269G>A GRCh38
NC_000010.10:g.135186773G>A , CM000672.1:g.135186773G>A GRCh37
NC_000010.9:g.135036763G>A NCBI36
NG_042077.1:g.5136C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.65C>T MANE Select ENSP00000357535.3:p.Pro22Leu
ENST00000368547.3:c.65C>T ENSP00000357535.3:p.Pro22Leu
NM_004092.3:c.65C>T NP_004083.3:p.Pro22Leu
XR_002956965.1:n.128C>T
NM_004092.4:c.65C>T MANE Select NP_004083.3:p.Pro22Leu
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Search 100 bp 3'