Canonical Allele Identifier: CA1594187378
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471687G= , CM000667.2:g.157471687G= GRCh38
NC_000005.9:g.156898695G= , CM000667.1:g.156898695G= GRCh37
NC_000005.8:g.156831273G= NCBI36
NG_016626.1:g.16669G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.456G= (NIPAL4) MANE Select ENSP00000311687.8:p.Glu152=
ENST00000435489.7:c.399G= (NIPAL4) ENSP00000406456.3:p.Glu133=
ENST00000311946.7:c.642G= (NIPAL4) ENSP00000311687.7:p.Glu214=
ENST00000435489.6:c.585G= (NIPAL4) ENSP00000406456.2:p.Glu195=
ENST00000517951.5:c.*1741+16578C= (ADAM19) ENSP00000428376.1:n.*1741+16578C=
ENST00000519150.1:c.554G= (NIPAL4) ENSP00000430810.1:n.554G=
NM_001099287.1:c.642G= (NIPAL4) NP_001092757.1:p.Glu214=
NM_001172292.1:c.585G= (NIPAL4) NP_001165763.1:p.Glu195=
XM_011534552.1:c.147G= (NIPAL4) XP_011532854.1:p.Glu49=
XM_024446043.1:c.-58G= (NIPAL4) XP_024301811.1:n.-58G=
NM_001099287.2:c.456G= (NIPAL4) MANE Select NP_001092757.2:p.Glu152=