Canonical Allele Identifier: CA3534718
Community Standard Title: NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg)
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157472448G>A , CM000667.2:g.157472448G>A GRCh38
NC_000005.9:g.156899456G>A , CM000667.1:g.156899456G>A GRCh37
NC_000005.8:g.156832034G>A NCBI36
NG_016626.1:g.17430G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001099287.2:c.703G>A (NIPAL4) MANE Select NP_001092757.2:p.Gly235Arg
ENST00000311946.8:c.703G>A (NIPAL4) MANE Select ENSP00000311687.8:p.Gly235Arg
NM_001099287.1:c.889G>A (NIPAL4) NP_001092757.1:p.Gly297Arg
NM_001172292.1:c.832G>A (NIPAL4) NP_001165763.1:p.Gly278Arg
ENST00000311946.7:c.889G>A (NIPAL4) ENSP00000311687.7:p.Gly297Arg
ENST00000435489.6:c.832G>A (NIPAL4) ENSP00000406456.2:p.Gly278Arg
ENST00000435489.7:c.646G>A (NIPAL4) ENSP00000406456.3:p.Gly216Arg
ENST00000517951.5:c.*1741+15817C>T (ADAM19) ENSP00000428376.1:n.*1741+15817C>T
XM_011534552.1:c.394G>A (NIPAL4) XP_011532854.1:p.Gly132Arg
XM_024446043.1:c.190G>A (NIPAL4) XP_024301811.1:p.Gly64Arg