Canonical Allele Identifier: CA361972494
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471695A>C , CM000667.2:g.157471695A>C GRCh38
NC_000005.9:g.156898703A>C , CM000667.1:g.156898703A>C GRCh37
NC_000005.8:g.156831281A>C NCBI36
NG_016626.1:g.16677A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.464A>C (NIPAL4) MANE Select ENSP00000311687.8:p.Asn155Thr
ENST00000435489.7:c.407A>C (NIPAL4) ENSP00000406456.3:p.Asn136Thr
ENST00000311946.7:c.650A>C (NIPAL4) ENSP00000311687.7:p.Asn217Thr
ENST00000435489.6:c.593A>C (NIPAL4) ENSP00000406456.2:p.Asn198Thr
ENST00000517951.5:c.*1741+16570T>G (ADAM19) ENSP00000428376.1:n.*1741+16570T>G
ENST00000519150.1:c.562A>C (NIPAL4) ENSP00000430810.1:n.562A>C
NM_001099287.1:c.650A>C (NIPAL4) NP_001092757.1:p.Asn217Thr
NM_001172292.1:c.593A>C (NIPAL4) NP_001165763.1:p.Asn198Thr
XM_011534552.1:c.155A>C (NIPAL4) XP_011532854.1:p.Asn52Thr
XM_024446043.1:c.-50A>C (NIPAL4) XP_024301811.1:n.-50A>C
NM_001099287.2:c.464A>C (NIPAL4) MANE Select NP_001092757.2:p.Asn155Thr