Canonical Allele Identifier: CA130411
Gene: OPLAH HGNC NCBI

Linked Data

ClinVar Variation Id: 39636
ClinVar RCV Id: RCV000032836 RCV003914892
dbSNP Id: rs185836803
ExAC: 8:145107390 C / T
gnomAD v2: 8-145107390-C-T
gnomAD v3: 8-144052487-C-T
gnomAD v4: 8-144052487-C-T
MyVariant Identifiers: chr8:g.145107390C>T (hg19) chr8:g.144052487C>T (hg38)
PubMed: PMID:23430506
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144052487C>T , CM000670.2:g.144052487C>T GRCh38
NC_000008.10:g.145107390C>T , CM000670.1:g.145107390C>T GRCh37
NC_000008.9:g.145179378C>T NCBI36
NG_032671.1:g.13195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000618853.5:c.3265G>A MANE Select ENSP00000480476.1:p.Val1089Ile
ENST00000618853.4:c.3265G>A ENSP00000480476.1:p.Val1089Ile
NM_017570.4:c.3265G>A NP_060040.1:p.Val1089Ile
XM_011516960.1:c.3553G>A XP_011515262.1:p.Val1185Ile
XR_001745509.1:n.3640G>A
NM_017570.5:c.3265G>A MANE Select NP_060040.1:p.Val1089Ile
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