Canonical Allele Identifier: CA1594187413
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471709C= , CM000667.2:g.157471709C= GRCh38
NC_000005.9:g.156898717C= , CM000667.1:g.156898717C= GRCh37
NC_000005.8:g.156831295C= NCBI36
NG_016626.1:g.16691C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.478C= (NIPAL4) MANE Select ENSP00000311687.8:p.Leu160=
ENST00000435489.7:c.421C= (NIPAL4) ENSP00000406456.3:p.Leu141=
ENST00000311946.7:c.664C= (NIPAL4) ENSP00000311687.7:p.Leu222=
ENST00000435489.6:c.607C= (NIPAL4) ENSP00000406456.2:p.Leu203=
ENST00000517951.5:c.*1741+16556G= (ADAM19) ENSP00000428376.1:n.*1741+16556G=
ENST00000519150.1:c.576C= (NIPAL4) ENSP00000430810.1:n.576C=
NM_001099287.1:c.664C= (NIPAL4) NP_001092757.1:p.Leu222=
NM_001172292.1:c.607C= (NIPAL4) NP_001165763.1:p.Leu203=
XM_011534552.1:c.169C= (NIPAL4) XP_011532854.1:p.Leu57=
XM_024446043.1:c.-36C= (NIPAL4) XP_024301811.1:n.-36C=
NM_001099287.2:c.478C= (NIPAL4) MANE Select NP_001092757.2:p.Leu160=