Canonical Allele Identifier: CA361980061
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463184T>A , CM000667.2:g.157463184T>A GRCh38
NC_000005.9:g.156890192T>A , CM000667.1:g.156890192T>A GRCh37
NC_000005.8:g.156822770T>A NCBI36
NG_016626.1:g.8166T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.128T>A (NIPAL4) MANE Select ENSP00000311687.8:p.Phe43Tyr
ENST00000435489.7:c.128T>A (NIPAL4) ENSP00000406456.3:p.Phe43Tyr
ENST00000311946.7:c.314T>A (NIPAL4) ENSP00000311687.7:p.Phe105Tyr
ENST00000435489.6:c.314T>A (NIPAL4) ENSP00000406456.2:p.Phe105Tyr
ENST00000517951.5:c.*1741+25081A>T (ADAM19) ENSP00000428376.1:n.*1741+25081A>T
ENST00000519150.1:c.226T>A (NIPAL4) ENSP00000430810.1:p.Phe76Ile
ENST00000519946.1:n.342T>A (NIPAL4)
ENST00000521390.5:n.233T>A (NIPAL4)
NM_001099287.1:c.314T>A (NIPAL4) NP_001092757.1:p.Phe105Tyr
NM_001172292.1:c.314T>A (NIPAL4) NP_001165763.1:p.Phe105Tyr
XM_011534552.1:c.-182T>A (NIPAL4) XP_011532854.1:n.-182T>A
XM_024446043.1:c.-329T>A (NIPAL4) XP_024301811.1:n.-329T>A
NM_001099287.2:c.128T>A (NIPAL4) MANE Select NP_001092757.2:p.Phe43Tyr