Canonical Allele Identifier: CA447431384
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471777C>T , CM000667.2:g.157471777C>T GRCh38
NC_000005.9:g.156898785C>T , CM000667.1:g.156898785C>T GRCh37
NC_000005.8:g.156831363C>T NCBI36
NG_016626.1:g.16759C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.546C>T (NIPAL4) MANE Select ENSP00000311687.8:p.Val182=
ENST00000435489.7:c.489C>T (NIPAL4) ENSP00000406456.3:p.Val163=
ENST00000311946.7:c.732C>T (NIPAL4) ENSP00000311687.7:p.Val244=
ENST00000435489.6:c.675C>T (NIPAL4) ENSP00000406456.2:p.Val225=
ENST00000517951.5:c.*1741+16488G>A (ADAM19) ENSP00000428376.1:n.*1741+16488G>A
ENST00000519150.1:c.644C>T (NIPAL4) ENSP00000430810.1:n.644C>T
NM_001099287.1:c.732C>T (NIPAL4) NP_001092757.1:p.Val244=
NM_001172292.1:c.675C>T (NIPAL4) NP_001165763.1:p.Val225=
XM_011534552.1:c.237C>T (NIPAL4) XP_011532854.1:p.Val79=
XM_024446043.1:c.33C>T (NIPAL4) XP_024301811.1:p.Val11=
NM_001099287.2:c.546C>T (NIPAL4) MANE Select NP_001092757.2:p.Val182=