Canonical Allele Identifier: CA1594187399
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471700C= , CM000667.2:g.157471700C= GRCh38
NC_000005.9:g.156898708C= , CM000667.1:g.156898708C= GRCh37
NC_000005.8:g.156831286C= NCBI36
NG_016626.1:g.16682C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.469C= (NIPAL4) MANE Select ENSP00000311687.8:p.Leu157=
ENST00000435489.7:c.412C= (NIPAL4) ENSP00000406456.3:p.Leu138=
ENST00000311946.7:c.655C= (NIPAL4) ENSP00000311687.7:p.Leu219=
ENST00000435489.6:c.598C= (NIPAL4) ENSP00000406456.2:p.Leu200=
ENST00000517951.5:c.*1741+16565G= (ADAM19) ENSP00000428376.1:n.*1741+16565G=
ENST00000519150.1:c.567C= (NIPAL4) ENSP00000430810.1:n.567C=
NM_001099287.1:c.655C= (NIPAL4) NP_001092757.1:p.Leu219=
NM_001172292.1:c.598C= (NIPAL4) NP_001165763.1:p.Leu200=
XM_011534552.1:c.160C= (NIPAL4) XP_011532854.1:p.Leu54=
XM_024446043.1:c.-45C= (NIPAL4) XP_024301811.1:n.-45C=
NM_001099287.2:c.469C= (NIPAL4) MANE Select NP_001092757.2:p.Leu157=