Canonical Allele Identifier: CA4931323

Gene: OPLAH

Linked Data

• ClinVar Variation Id: 1164217
• ClinVar RCV Id: RCV001509851 ; RCV003980464
• dbSNP Id: rs61732533
• ExAC: 8:145108151 G / A
• gnomAD v2: 8-145108151-G-A
• gnomAD v3: 8-144053248-G-A
• gnomAD v4: 8-144053248-G-A
• MyVariant Identifiers: chr8:g.145108151G>A (hg19) ; chr8:g.144053248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144053248G>A , CM000670.2:g.144053248G>A	GRCh38
NC_000008.10:g.145108151G>A , CM000670.1:g.145108151G>A	GRCh37
NC_000008.9:g.145180139G>A	NCBI36
NG_032671.1:g.12434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000618853.5:c.2832C>T MANE Select	ENSP00000480476.1:p.Tyr944=
ENST00000527993.1:n.239C>T
ENST00000531027.1:n.465C>T
ENST00000618853.4:c.2832C>T	ENSP00000480476.1:p.Tyr944=
NM_017570.4:c.2832C>T	NP_060040.1:p.Tyr944=
XM_011516960.1:c.3120C>T	XP_011515262.1:p.Tyr1040=
XM_011516961.1:c.3115C>T	XP_011515263.1:p.Arg1039Trp
XR_001745509.1:n.3207C>T
NM_017570.5:c.2832C>T MANE Select	NP_060040.1:p.Tyr944=