Canonical Allele Identifier: CA361973023
Community Standard Title: NM_001099287.2(NIPAL4):c.587-2A>G
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157472330A>G , CM000667.2:g.157472330A>G GRCh38
NC_000005.9:g.156899338A>G , CM000667.1:g.156899338A>G GRCh37
NC_000005.8:g.156831916A>G NCBI36
NG_016626.1:g.17312A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001099287.2:c.587-2A>G (NIPAL4) MANE Select NP_001092757.2:n.587-2A>G
ENST00000311946.8:c.587-2A>G (NIPAL4) MANE Select ENSP00000311687.8:n.587-2A>G
NM_001099287.1:c.773-2A>G (NIPAL4) NP_001092757.1:n.773-2A>G
NM_001172292.1:c.716-2A>G (NIPAL4) NP_001165763.1:n.716-2A>G
ENST00000311946.7:c.773-2A>G (NIPAL4) ENSP00000311687.7:n.773-2A>G
ENST00000435489.6:c.716-2A>G (NIPAL4) ENSP00000406456.2:n.716-2A>G
ENST00000435489.7:c.530-2A>G (NIPAL4) ENSP00000406456.3:n.530-2A>G
ENST00000517951.5:c.*1741+15935T>C (ADAM19) ENSP00000428376.1:n.*1741+15935T>C
ENST00000519150.1:c.685-2A>G (NIPAL4) ENSP00000430810.1:n.685-2A>G
XM_011534552.1:c.278-2A>G (NIPAL4) XP_011532854.1:n.278-2A>G
XM_024446043.1:c.74-2A>G (NIPAL4) XP_024301811.1:n.74-2A>G