Canonical Allele Identifier: CA2676215133
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463356G>A , CM000667.2:g.157463356G>A GRCh38
NC_000005.9:g.156890364G>A , CM000667.1:g.156890364G>A GRCh37
NC_000005.8:g.156822942G>A NCBI36
NG_016626.1:g.8338G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.277+23G>A (NIPAL4) MANE Select ENSP00000311687.8:n.277+23G>A
ENST00000435489.7:c.277+23G>A (NIPAL4) ENSP00000406456.3:n.277+23G>A
ENST00000311946.7:c.463+23G>A (NIPAL4) ENSP00000311687.7:n.463+23G>A
ENST00000435489.6:c.463+23G>A (NIPAL4) ENSP00000406456.2:n.463+23G>A
ENST00000517951.5:c.*1741+24909C>T (ADAM19) ENSP00000428376.1:n.*1741+24909C>T
ENST00000519150.1:c.375+23G>A (NIPAL4) ENSP00000430810.1:n.375+23G>A
ENST00000519946.1:n.491+23G>A (NIPAL4)
ENST00000521390.5:n.382+23G>A (NIPAL4)
NM_001099287.1:c.463+23G>A (NIPAL4) NP_001092757.1:n.463+23G>A
NM_001172292.1:c.463+23G>A (NIPAL4) NP_001165763.1:n.463+23G>A
XM_011534552.1:c.-33+23G>A (NIPAL4) XP_011532854.1:n.-33+23G>A
XM_024446043.1:c.-180+23G>A (NIPAL4) XP_024301811.1:n.-180+23G>A
NM_001099287.2:c.277+23G>A (NIPAL4) MANE Select NP_001092757.2:n.277+23G>A