Canonical Allele Identifier: CA1594187630
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471782C= , CM000667.2:g.157471782C= GRCh38
NC_000005.9:g.156898790C= , CM000667.1:g.156898790C= GRCh37
NC_000005.8:g.156831368C= NCBI36
NG_016626.1:g.16764C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.551C= (NIPAL4) MANE Select ENSP00000311687.8:p.Thr184=
ENST00000435489.7:c.494C= (NIPAL4) ENSP00000406456.3:p.Thr165=
ENST00000311946.7:c.737C= (NIPAL4) ENSP00000311687.7:p.Thr246=
ENST00000435489.6:c.680C= (NIPAL4) ENSP00000406456.2:p.Thr227=
ENST00000517951.5:c.*1741+16483G= (ADAM19) ENSP00000428376.1:n.*1741+16483G=
ENST00000519150.1:c.649C= (NIPAL4) ENSP00000430810.1:n.649C=
NM_001099287.1:c.737C= (NIPAL4) NP_001092757.1:p.Thr246=
NM_001172292.1:c.680C= (NIPAL4) NP_001165763.1:p.Thr227=
XM_011534552.1:c.242C= (NIPAL4) XP_011532854.1:p.Thr81=
XM_024446043.1:c.38C= (NIPAL4) XP_024301811.1:p.Thr13=
NM_001099287.2:c.551C= (NIPAL4) MANE Select NP_001092757.2:p.Thr184=