Canonical Allele Identifier: CA1594183052
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463249C= , CM000667.2:g.157463249C= GRCh38
NC_000005.9:g.156890257C= , CM000667.1:g.156890257C= GRCh37
NC_000005.8:g.156822835C= NCBI36
NG_016626.1:g.8231C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.193C= (NIPAL4) MANE Select ENSP00000311687.8:p.Leu65=
ENST00000435489.7:c.193C= (NIPAL4) ENSP00000406456.3:p.Leu65=
ENST00000311946.7:c.379C= (NIPAL4) ENSP00000311687.7:p.Leu127=
ENST00000435489.6:c.379C= (NIPAL4) ENSP00000406456.2:p.Leu127=
ENST00000517951.5:c.*1741+25016G= (ADAM19) ENSP00000428376.1:n.*1741+25016G=
ENST00000519150.1:c.291C= (NIPAL4) ENSP00000430810.1:p.Ser97=
ENST00000519946.1:n.407C= (NIPAL4)
ENST00000521390.5:n.298C= (NIPAL4)
NM_001099287.1:c.379C= (NIPAL4) NP_001092757.1:p.Leu127=
NM_001172292.1:c.379C= (NIPAL4) NP_001165763.1:p.Leu127=
XM_011534552.1:c.-117C= (NIPAL4) XP_011532854.1:n.-117C=
XM_024446043.1:c.-264C= (NIPAL4) XP_024301811.1:n.-264C=
NM_001099287.2:c.193C= (NIPAL4) MANE Select NP_001092757.2:p.Leu65=