Canonical Allele Identifier: CA361972764
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471779C>T , CM000667.2:g.157471779C>T GRCh38
NC_000005.9:g.156898787C>T , CM000667.1:g.156898787C>T GRCh37
NC_000005.8:g.156831365C>T NCBI36
NG_016626.1:g.16761C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.548C>T (NIPAL4) MANE Select ENSP00000311687.8:p.Thr183Ile
ENST00000435489.7:c.491C>T (NIPAL4) ENSP00000406456.3:p.Thr164Ile
ENST00000311946.7:c.734C>T (NIPAL4) ENSP00000311687.7:p.Thr245Ile
ENST00000435489.6:c.677C>T (NIPAL4) ENSP00000406456.2:p.Thr226Ile
ENST00000517951.5:c.*1741+16486G>A (ADAM19) ENSP00000428376.1:n.*1741+16486G>A
ENST00000519150.1:c.646C>T (NIPAL4) ENSP00000430810.1:n.646C>T
NM_001099287.1:c.734C>T (NIPAL4) NP_001092757.1:p.Thr245Ile
NM_001172292.1:c.677C>T (NIPAL4) NP_001165763.1:p.Thr226Ile
XM_011534552.1:c.239C>T (NIPAL4) XP_011532854.1:p.Thr80Ile
XM_024446043.1:c.35C>T (NIPAL4) XP_024301811.1:p.Thr12Ile
NM_001099287.2:c.548C>T (NIPAL4) MANE Select NP_001092757.2:p.Thr183Ile