Canonical Allele Identifier: CA361971940
Community Standard Title: NM_001099287.2(NIPAL4):c.425+1G>A
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157468813G>A , CM000667.2:g.157468813G>A GRCh38
NC_000005.9:g.156895821G>A , CM000667.1:g.156895821G>A GRCh37
NC_000005.8:g.156828399G>A NCBI36
NG_016626.1:g.13795G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001099287.2:c.425+1G>A (NIPAL4) MANE Select NP_001092757.2:n.425+1G>A
ENST00000311946.8:c.425+1G>A (NIPAL4) MANE Select ENSP00000311687.8:n.425+1G>A
NM_001099287.1:c.611+1G>A (NIPAL4) NP_001092757.1:n.611+1G>A
NM_001172292.1:c.554+1G>A (NIPAL4) NP_001165763.1:n.554+1G>A
ENST00000311946.7:c.611+1G>A (NIPAL4) ENSP00000311687.7:n.611+1G>A
ENST00000435489.6:c.554+1G>A (NIPAL4) ENSP00000406456.2:n.554+1G>A
ENST00000435489.7:c.368+1G>A (NIPAL4) ENSP00000406456.3:n.368+1G>A
ENST00000517951.5:c.*1741+19452C>T (ADAM19) ENSP00000428376.1:n.*1741+19452C>T
ENST00000519150.1:c.523+1G>A (NIPAL4) ENSP00000430810.1:n.523+1G>A
XM_011534552.1:c.116+1G>A (NIPAL4) XP_011532854.1:n.116+1G>A
XM_024446043.1:c.-89+1G>A (NIPAL4) XP_024301811.1:n.-89+1G>A