Canonical Allele Identifier: CA447431211
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471708G>A , CM000667.2:g.157471708G>A GRCh38
NC_000005.9:g.156898716G>A , CM000667.1:g.156898716G>A GRCh37
NC_000005.8:g.156831294G>A NCBI36
NG_016626.1:g.16690G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.477G>A (NIPAL4) MANE Select ENSP00000311687.8:p.Lys159=
ENST00000435489.7:c.420G>A (NIPAL4) ENSP00000406456.3:p.Lys140=
ENST00000311946.7:c.663G>A (NIPAL4) ENSP00000311687.7:p.Lys221=
ENST00000435489.6:c.606G>A (NIPAL4) ENSP00000406456.2:p.Lys202=
ENST00000517951.5:c.*1741+16557C>T (ADAM19) ENSP00000428376.1:n.*1741+16557C>T
ENST00000519150.1:c.575G>A (NIPAL4) ENSP00000430810.1:n.575G>A
NM_001099287.1:c.663G>A (NIPAL4) NP_001092757.1:p.Lys221=
NM_001172292.1:c.606G>A (NIPAL4) NP_001165763.1:p.Lys202=
XM_011534552.1:c.168G>A (NIPAL4) XP_011532854.1:p.Lys56=
XM_024446043.1:c.-37G>A (NIPAL4) XP_024301811.1:n.-37G>A
NM_001099287.2:c.477G>A (NIPAL4) MANE Select NP_001092757.2:p.Lys159=