Canonical Allele Identifier: CA447431396
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471783C>A , CM000667.2:g.157471783C>A GRCh38
NC_000005.9:g.156898791C>A , CM000667.1:g.156898791C>A GRCh37
NC_000005.8:g.156831369C>A NCBI36
NG_016626.1:g.16765C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.552C>A (NIPAL4) MANE Select ENSP00000311687.8:p.Thr184=
ENST00000435489.7:c.495C>A (NIPAL4) ENSP00000406456.3:p.Thr165=
ENST00000311946.7:c.738C>A (NIPAL4) ENSP00000311687.7:p.Thr246=
ENST00000435489.6:c.681C>A (NIPAL4) ENSP00000406456.2:p.Thr227=
ENST00000517951.5:c.*1741+16482G>T (ADAM19) ENSP00000428376.1:n.*1741+16482G>T
ENST00000519150.1:c.650C>A (NIPAL4) ENSP00000430810.1:n.650C>A
NM_001099287.1:c.738C>A (NIPAL4) NP_001092757.1:p.Thr246=
NM_001172292.1:c.681C>A (NIPAL4) NP_001165763.1:p.Thr227=
XM_011534552.1:c.243C>A (NIPAL4) XP_011532854.1:p.Thr81=
XM_024446043.1:c.39C>A (NIPAL4) XP_024301811.1:p.Thr13=
NM_001099287.2:c.552C>A (NIPAL4) MANE Select NP_001092757.2:p.Thr184=