Canonical Allele Identifier: CA361972515
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471706A>T , CM000667.2:g.157471706A>T GRCh38
NC_000005.9:g.156898714A>T , CM000667.1:g.156898714A>T GRCh37
NC_000005.8:g.156831292A>T NCBI36
NG_016626.1:g.16688A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.475A>T (NIPAL4) MANE Select ENSP00000311687.8:p.Lys159Ter
ENST00000435489.7:c.418A>T (NIPAL4) ENSP00000406456.3:p.Lys140Ter
ENST00000311946.7:c.661A>T (NIPAL4) ENSP00000311687.7:p.Lys221Ter
ENST00000435489.6:c.604A>T (NIPAL4) ENSP00000406456.2:p.Lys202Ter
ENST00000517951.5:c.*1741+16559T>A (ADAM19) ENSP00000428376.1:n.*1741+16559T>A
ENST00000519150.1:c.573A>T (NIPAL4) ENSP00000430810.1:n.573A>T
NM_001099287.1:c.661A>T (NIPAL4) NP_001092757.1:p.Lys221Ter
NM_001172292.1:c.604A>T (NIPAL4) NP_001165763.1:p.Lys202Ter
XM_011534552.1:c.166A>T (NIPAL4) XP_011532854.1:p.Lys56Ter
XM_024446043.1:c.-39A>T (NIPAL4) XP_024301811.1:n.-39A>T
NM_001099287.2:c.475A>T (NIPAL4) MANE Select NP_001092757.2:p.Lys159Ter