Canonical Allele Identifier: CA1594185302
Community Standard Title: NM_001099287.2(NIPAL4):c.341C= (p.Ala114=)
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157468728C= , CM000667.2:g.157468728C= GRCh38
NC_000005.9:g.156895736C= , CM000667.1:g.156895736C= GRCh37
NC_000005.8:g.156828314C= NCBI36
NG_016626.1:g.13710C=

Transcript Alleles

HGVS Amino-acid Change
NM_001099287.2:c.341C= (NIPAL4) MANE Select NP_001092757.2:p.Ala114=
ENST00000311946.8:c.341C= (NIPAL4) MANE Select ENSP00000311687.8:p.Ala114=
NM_001099287.1:c.527C= (NIPAL4) NP_001092757.1:p.Ala176=
NM_001172292.1:c.470C= (NIPAL4) NP_001165763.1:p.Ala157=
ENST00000311946.7:c.527C= (NIPAL4) ENSP00000311687.7:p.Ala176=
ENST00000435489.6:c.470C= (NIPAL4) ENSP00000406456.2:p.Ala157=
ENST00000435489.7:c.284C= (NIPAL4) ENSP00000406456.3:p.Ala95=
ENST00000517951.5:c.*1741+19537G= (ADAM19) ENSP00000428376.1:n.*1741+19537G=
ENST00000519150.1:c.439C= (NIPAL4) ENSP00000430810.1:n.439C=
ENST00000519946.1:n.555C= (NIPAL4)
XM_011534552.1:c.32C= (NIPAL4) XP_011532854.1:p.Ala11=
XM_024446043.1:c.-173C= (NIPAL4) XP_024301811.1:n.-173C=