Canonical Allele Identifier: CA4931857

Gene: OPLAH MIR6846

Linked Data

• ClinVar Variation Id: 2916754
• ClinVar RCV Id: RCV003643425
• dbSNP Id: rs782251224
• ExAC: 8:145112228 G / A
• gnomAD v2: 8-145112228-G-A
• gnomAD v3: 8-144057325-G-A
• gnomAD v4: 8-144057325-G-A
• MyVariant Identifiers: chr8:g.145112228G>A (hg19) ; chr8:g.144057325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144057325G>A , CM000670.2:g.144057325G>A	GRCh38
NC_000008.10:g.145112228G>A , CM000670.1:g.145112228G>A	GRCh37
NC_000008.9:g.145184216G>A	NCBI36
NG_032671.1:g.8357C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000618853.5:c.1423-5C>T (OPLAH) MANE Select	ENSP00000480476.1:n.1423-5C>T
ENST00000618853.4:c.1423-5C>T (OPLAH)	ENSP00000480476.1:n.1423-5C>T
NM_017570.4:c.1423-5C>T (OPLAH)	NP_060040.1:n.1423-5C>T
NR_106905.1:n.56C>T (MIR6846)
XM_011516960.1:c.1711-5C>T (OPLAH)	XP_011515262.1:n.1711-5C>T
XM_011516961.1:c.1711-5C>T (OPLAH)	XP_011515263.1:n.1711-5C>T
XR_001745509.1:n.1803-5C>T (OPLAH)
NM_017570.5:c.1423-5C>T (OPLAH) MANE Select	NP_060040.1:n.1423-5C>T