Canonical Allele Identifier: CA120648
Gene: ZNF81 HGNC NCBI

Linked Data

ClinVar Variation Id: 9759
ClinVar RCV Id: RCV000010413
dbSNP Id: rs28933691
gnomAD v2: X-47774581-G-A
gnomAD v3: X-47915182-G-A
gnomAD v4: X-47915182-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47915182G>A , CM000685.2:g.47915182G>A GRCh38
NC_000023.10:g.47774581G>A , CM000685.1:g.47774581G>A GRCh37
NC_000023.9:g.47659525G>A NCBI36
NG_021266.1:g.83281G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338637.13:c.536G>A MANE Select ENSP00000341151.7:p.Ser179Asn
ENST00000376954.6:c.536G>A ENSP00000366153.1:p.Ser179Asn
ENST00000338637.11:c.536G>A ENSP00000341151.7:p.Ser179Asn
ENST00000376950.4:c.277+19242G>A ENSP00000366149.4:n.277+19242G>A
ENST00000376954.5:c.536G>A ENSP00000366153.1:p.Ser179Asn
NM_007137.3:c.536G>A NP_009068.2:p.Ser179Asn
XM_005272600.2:c.536G>A XP_005272657.1:p.Ser179Asn
XM_011543899.1:c.536G>A XP_011542201.1:p.Ser179Asn
XM_011543900.1:c.536G>A XP_011542202.1:p.Ser179Asn
XM_011543901.1:c.536G>A XP_011542203.1:p.Ser179Asn
XM_011543902.1:c.536G>A XP_011542204.1:p.Ser179Asn
XM_005272600.3:c.536G>A XP_005272657.1:p.Ser179Asn
XM_011543899.2:c.536G>A XP_011542201.1:p.Ser179Asn
XM_011543900.2:c.536G>A XP_011542202.1:p.Ser179Asn
XM_017029486.1:c.536G>A XP_016884975.1:p.Ser179Asn
XM_017029487.1:c.536G>A XP_016884976.1:p.Ser179Asn
NM_001378152.1:c.536G>A NP_001365081.1:p.Ser179Asn
NM_001378153.1:c.536G>A NP_001365082.1:p.Ser179Asn
NM_001378154.1:c.278-8742G>A NP_001365083.1:n.278-8742G>A
NM_001378155.1:c.278-6126G>A NP_001365084.1:n.278-6126G>A
NM_007137.5:c.536G>A MANE Select NP_009068.2:p.Ser179Asn