Canonical Allele Identifier: CA361980138
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463210C>A , CM000667.2:g.157463210C>A GRCh38
NC_000005.9:g.156890218C>A , CM000667.1:g.156890218C>A GRCh37
NC_000005.8:g.156822796C>A NCBI36
NG_016626.1:g.8192C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000311946.8:c.154C>A (NIPAL4) MANE Select ENSP00000311687.8:p.Gln52Lys
ENST00000435489.7:c.154C>A (NIPAL4) ENSP00000406456.3:p.Gln52Lys
ENST00000311946.7:c.340C>A (NIPAL4) ENSP00000311687.7:p.Gln114Lys
ENST00000435489.6:c.340C>A (NIPAL4) ENSP00000406456.2:p.Gln114Lys
ENST00000517951.5:c.*1741+25055G>T (ADAM19) ENSP00000428376.1:n.*1741+25055G>T
ENST00000519150.1:c.252C>A (NIPAL4) ENSP00000430810.1:p.Gly84=
ENST00000519946.1:n.368C>A (NIPAL4)
ENST00000521390.5:n.259C>A (NIPAL4)
NM_001099287.1:c.340C>A (NIPAL4) NP_001092757.1:p.Gln114Lys
NM_001172292.1:c.340C>A (NIPAL4) NP_001165763.1:p.Gln114Lys
XM_011534552.1:c.-156C>A (NIPAL4) XP_011532854.1:n.-156C>A
XM_024446043.1:c.-303C>A (NIPAL4) XP_024301811.1:n.-303C>A
NM_001099287.2:c.154C>A (NIPAL4) MANE Select NP_001092757.2:p.Gln52Lys