Canonical Allele Identifier: CA1594183072
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463303C= , CM000667.2:g.157463303C= GRCh38
NC_000005.9:g.156890311C= , CM000667.1:g.156890311C= GRCh37
NC_000005.8:g.156822889C= NCBI36
NG_016626.1:g.8285C=

Transcript Alleles

HGVS Amino-acid Change
NM_001099287.2:c.247C= (NIPAL4) MANE Select NP_001092757.2:p.Arg83=
ENST00000311946.8:c.247C= (NIPAL4) MANE Select ENSP00000311687.8:p.Arg83=
NM_001099287.1:c.433C= (NIPAL4) NP_001092757.1:p.Arg145=
NM_001172292.1:c.433C= (NIPAL4) NP_001165763.1:p.Arg145=
ENST00000311946.7:c.433C= (NIPAL4) ENSP00000311687.7:p.Arg145=
ENST00000435489.6:c.433C= (NIPAL4) ENSP00000406456.2:p.Arg145=
ENST00000435489.7:c.247C= (NIPAL4) ENSP00000406456.3:p.Arg83=
ENST00000517951.5:c.*1741+24962G= (ADAM19) ENSP00000428376.1:n.*1741+24962G=
ENST00000519150.1:c.345C= (NIPAL4) ENSP00000430810.1:p.Cys115=
ENST00000519946.1:n.461C= (NIPAL4)
ENST00000521390.5:n.352C= (NIPAL4)
XM_011534552.1:c.-63C= (NIPAL4) XP_011532854.1:n.-63C=
XM_024446043.1:c.-210C= (NIPAL4) XP_024301811.1:n.-210C=