Canonical Allele Identifier: CA1594183028
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463182C= , CM000667.2:g.157463182C= GRCh38
NC_000005.9:g.156890190C= , CM000667.1:g.156890190C= GRCh37
NC_000005.8:g.156822768C= NCBI36
NG_016626.1:g.8164C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.126C= (NIPAL4) MANE Select ENSP00000311687.8:p.Thr42=
ENST00000435489.7:c.126C= (NIPAL4) ENSP00000406456.3:p.Thr42=
ENST00000311946.7:c.312C= (NIPAL4) ENSP00000311687.7:p.Thr104=
ENST00000435489.6:c.312C= (NIPAL4) ENSP00000406456.2:p.Thr104=
ENST00000517951.5:c.*1741+25083G= (ADAM19) ENSP00000428376.1:n.*1741+25083G=
ENST00000519150.1:c.224C= (NIPAL4) ENSP00000430810.1:p.Pro75=
ENST00000519946.1:n.340C= (NIPAL4)
ENST00000521390.5:n.231C= (NIPAL4)
NM_001099287.1:c.312C= (NIPAL4) NP_001092757.1:p.Thr104=
NM_001172292.1:c.312C= (NIPAL4) NP_001165763.1:p.Thr104=
XM_011534552.1:c.-184C= (NIPAL4) XP_011532854.1:n.-184C=
XM_024446043.1:c.-331C= (NIPAL4) XP_024301811.1:n.-331C=
NM_001099287.2:c.126C= (NIPAL4) MANE Select NP_001092757.2:p.Thr42=