Canonical Allele Identifier: CA130149166
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471696C>T , CM000667.2:g.157471696C>T GRCh38
NC_000005.9:g.156898704C>T , CM000667.1:g.156898704C>T GRCh37
NC_000005.8:g.156831282C>T NCBI36
NG_016626.1:g.16678C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.465C>T (NIPAL4) MANE Select ENSP00000311687.8:p.Asn155=
ENST00000435489.7:c.408C>T (NIPAL4) ENSP00000406456.3:p.Asn136=
ENST00000311946.7:c.651C>T (NIPAL4) ENSP00000311687.7:p.Asn217=
ENST00000435489.6:c.594C>T (NIPAL4) ENSP00000406456.2:p.Asn198=
ENST00000517951.5:c.*1741+16569G>A (ADAM19) ENSP00000428376.1:n.*1741+16569G>A
ENST00000519150.1:c.563C>T (NIPAL4) ENSP00000430810.1:n.563C>T
NM_001099287.1:c.651C>T (NIPAL4) NP_001092757.1:p.Asn217=
NM_001172292.1:c.594C>T (NIPAL4) NP_001165763.1:p.Asn198=
XM_011534552.1:c.156C>T (NIPAL4) XP_011532854.1:p.Asn52=
XM_024446043.1:c.-49C>T (NIPAL4) XP_024301811.1:n.-49C>T
NM_001099287.2:c.465C>T (NIPAL4) MANE Select NP_001092757.2:p.Asn155=