Canonical Allele Identifier: CA403138938
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7561208-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7561208G>A , CM000681.2:g.7561208G>A GRCh38
NC_000019.9:g.7626094G>A , CM000681.1:g.7626094G>A GRCh37
NC_000019.8:g.7532094G>A NCBI36
NG_013374.1:g.32057G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.3914G>A MANE Select ENSP00000473211.1:p.Gly1305Glu
ENST00000221249.10:c.3800G>A ENSP00000221249.5:p.Gly1267Glu
ENST00000414982.7:c.3944G>A ENSP00000407509.2:p.Gly1315Glu
ENST00000450331.7:c.3800G>A ENSP00000394348.2:p.Gly1267Glu
ENST00000545201.6:c.3719G>A ENSP00000443323.1:p.Gly1240Glu
ENST00000597202.1:n.272G>A
ENST00000599947.1:c.283G>A
ENST00000600737.5:c.3914G>A ENSP00000473211.1:p.Gly1305Glu
NM_001166111.1:c.3944G>A NP_001159583.1:p.Gly1315Glu
NM_001166112.1:c.3719G>A NP_001159584.1:p.Gly1240Glu
NM_001166113.1:c.3800G>A NP_001159585.1:p.Gly1267Glu
NM_001166114.1:c.3914G>A NP_001159586.1:p.Gly1305Glu
NM_006702.4:c.3800G>A NP_006693.3:p.Gly1267Glu
NM_001166111.2:c.3944G>A NP_001159583.1:p.Gly1315Glu
NM_001166114.2:c.3914G>A MANE Select NP_001159586.1:p.Gly1305Glu
NM_006702.5:c.3800G>A NP_006693.3:p.Gly1267Glu
NM_001166112.2:c.3719G>A NP_001159584.1:p.Gly1240Glu