Canonical Allele Identifier: CA361972588
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471733G>C , CM000667.2:g.157471733G>C GRCh38
NC_000005.9:g.156898741G>C , CM000667.1:g.156898741G>C GRCh37
NC_000005.8:g.156831319G>C NCBI36
NG_016626.1:g.16715G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.502G>C (NIPAL4) MANE Select ENSP00000311687.8:p.Gly168Arg
ENST00000435489.7:c.445G>C (NIPAL4) ENSP00000406456.3:p.Gly149Arg
ENST00000311946.7:c.688G>C (NIPAL4) ENSP00000311687.7:p.Gly230Arg
ENST00000435489.6:c.631G>C (NIPAL4) ENSP00000406456.2:p.Gly211Arg
ENST00000517951.5:c.*1741+16532C>G (ADAM19) ENSP00000428376.1:n.*1741+16532C>G
ENST00000519150.1:c.600G>C (NIPAL4) ENSP00000430810.1:n.600G>C
NM_001099287.1:c.688G>C (NIPAL4) NP_001092757.1:p.Gly230Arg
NM_001172292.1:c.631G>C (NIPAL4) NP_001165763.1:p.Gly211Arg
XM_011534552.1:c.193G>C (NIPAL4) XP_011532854.1:p.Gly65Arg
XM_024446043.1:c.-12G>C (NIPAL4) XP_024301811.1:n.-12G>C
NM_001099287.2:c.502G>C (NIPAL4) MANE Select NP_001092757.2:p.Gly168Arg