Canonical Allele Identifier: CA361980148
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463214A>C , CM000667.2:g.157463214A>C GRCh38
NC_000005.9:g.156890222A>C , CM000667.1:g.156890222A>C GRCh37
NC_000005.8:g.156822800A>C NCBI36
NG_016626.1:g.8196A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000311946.8:c.158A>C (NIPAL4) MANE Select ENSP00000311687.8:p.Asn53Thr
ENST00000435489.7:c.158A>C (NIPAL4) ENSP00000406456.3:p.Asn53Thr
ENST00000311946.7:c.344A>C (NIPAL4) ENSP00000311687.7:p.Asn115Thr
ENST00000435489.6:c.344A>C (NIPAL4) ENSP00000406456.2:p.Asn115Thr
ENST00000517951.5:c.*1741+25051T>G (ADAM19) ENSP00000428376.1:n.*1741+25051T>G
ENST00000519150.1:c.256A>C (NIPAL4) ENSP00000430810.1:p.Thr86Pro
ENST00000519946.1:n.372A>C (NIPAL4)
ENST00000521390.5:n.263A>C (NIPAL4)
NM_001099287.1:c.344A>C (NIPAL4) NP_001092757.1:p.Asn115Thr
NM_001172292.1:c.344A>C (NIPAL4) NP_001165763.1:p.Asn115Thr
XM_011534552.1:c.-152A>C (NIPAL4) XP_011532854.1:n.-152A>C
XM_024446043.1:c.-299A>C (NIPAL4) XP_024301811.1:n.-299A>C
NM_001099287.2:c.158A>C (NIPAL4) MANE Select NP_001092757.2:p.Asn53Thr