Canonical Allele Identifier: CA447431412
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471786C>A , CM000667.2:g.157471786C>A GRCh38
NC_000005.9:g.156898794C>A , CM000667.1:g.156898794C>A GRCh37
NC_000005.8:g.156831372C>A NCBI36
NG_016626.1:g.16768C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.555C>A (NIPAL4) MANE Select ENSP00000311687.8:p.Ile185=
ENST00000435489.7:c.498C>A (NIPAL4) ENSP00000406456.3:p.Ile166=
ENST00000311946.7:c.741C>A (NIPAL4) ENSP00000311687.7:p.Ile247=
ENST00000435489.6:c.684C>A (NIPAL4) ENSP00000406456.2:p.Ile228=
ENST00000517951.5:c.*1741+16479G>T (ADAM19) ENSP00000428376.1:n.*1741+16479G>T
ENST00000519150.1:c.653C>A (NIPAL4) ENSP00000430810.1:n.653C>A
NM_001099287.1:c.741C>A (NIPAL4) NP_001092757.1:p.Ile247=
NM_001172292.1:c.684C>A (NIPAL4) NP_001165763.1:p.Ile228=
XM_011534552.1:c.246C>A (NIPAL4) XP_011532854.1:p.Ile82=
XM_024446043.1:c.42C>A (NIPAL4) XP_024301811.1:p.Ile14=
NM_001099287.2:c.555C>A (NIPAL4) MANE Select NP_001092757.2:p.Ile185=