Canonical Allele Identifier: CA361979894
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463126G>A , CM000667.2:g.157463126G>A GRCh38
NC_000005.9:g.156890134G>A , CM000667.1:g.156890134G>A GRCh37
NC_000005.8:g.156822712G>A NCBI36
NG_016626.1:g.8108G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.70G>A (NIPAL4) MANE Select ENSP00000311687.8:p.Glu24Lys
ENST00000435489.7:c.70G>A (NIPAL4) ENSP00000406456.3:p.Glu24Lys
ENST00000311946.7:c.256G>A (NIPAL4) ENSP00000311687.7:p.Glu86Lys
ENST00000435489.6:c.256G>A (NIPAL4) ENSP00000406456.2:p.Glu86Lys
ENST00000517951.5:c.*1741+25139C>T (ADAM19) ENSP00000428376.1:n.*1741+25139C>T
ENST00000519150.1:c.168G>A (NIPAL4) ENSP00000430810.1:p.Lys56=
ENST00000519946.1:n.284G>A (NIPAL4)
ENST00000521390.5:n.175G>A (NIPAL4)
NM_001099287.1:c.256G>A (NIPAL4) NP_001092757.1:p.Glu86Lys
NM_001172292.1:c.256G>A (NIPAL4) NP_001165763.1:p.Glu86Lys
XM_011534552.1:c.-240G>A (NIPAL4) XP_011532854.1:n.-240G>A
XM_024446043.1:c.-387G>A (NIPAL4) XP_024301811.1:n.-387G>A
NM_001099287.2:c.70G>A (NIPAL4) MANE Select NP_001092757.2:p.Glu24Lys