Canonical Allele Identifier: CA447431393
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471780T>G , CM000667.2:g.157471780T>G GRCh38
NC_000005.9:g.156898788T>G , CM000667.1:g.156898788T>G GRCh37
NC_000005.8:g.156831366T>G NCBI36
NG_016626.1:g.16762T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.549T>G (NIPAL4) MANE Select ENSP00000311687.8:p.Thr183=
ENST00000435489.7:c.492T>G (NIPAL4) ENSP00000406456.3:p.Thr164=
ENST00000311946.7:c.735T>G (NIPAL4) ENSP00000311687.7:p.Thr245=
ENST00000435489.6:c.678T>G (NIPAL4) ENSP00000406456.2:p.Thr226=
ENST00000517951.5:c.*1741+16485A>C (ADAM19) ENSP00000428376.1:n.*1741+16485A>C
ENST00000519150.1:c.647T>G (NIPAL4) ENSP00000430810.1:n.647T>G
NM_001099287.1:c.735T>G (NIPAL4) NP_001092757.1:p.Thr245=
NM_001172292.1:c.678T>G (NIPAL4) NP_001165763.1:p.Thr226=
XM_011534552.1:c.240T>G (NIPAL4) XP_011532854.1:p.Thr80=
XM_024446043.1:c.36T>G (NIPAL4) XP_024301811.1:p.Thr12=
NM_001099287.2:c.549T>G (NIPAL4) MANE Select NP_001092757.2:p.Thr183=