Canonical Allele Identifier: CA361980281
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463279A>T , CM000667.2:g.157463279A>T GRCh38
NC_000005.9:g.156890287A>T , CM000667.1:g.156890287A>T GRCh37
NC_000005.8:g.156822865A>T NCBI36
NG_016626.1:g.8261A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.223A>T (NIPAL4) MANE Select ENSP00000311687.8:p.Ile75Phe
ENST00000435489.7:c.223A>T (NIPAL4) ENSP00000406456.3:p.Ile75Phe
ENST00000311946.7:c.409A>T (NIPAL4) ENSP00000311687.7:p.Ile137Phe
ENST00000435489.6:c.409A>T (NIPAL4) ENSP00000406456.2:p.Ile137Phe
ENST00000517951.5:c.*1741+24986T>A (ADAM19) ENSP00000428376.1:n.*1741+24986T>A
ENST00000519150.1:c.321A>T (NIPAL4) ENSP00000430810.1:p.Ser107=
ENST00000519946.1:n.437A>T (NIPAL4)
ENST00000521390.5:n.328A>T (NIPAL4)
NM_001099287.1:c.409A>T (NIPAL4) NP_001092757.1:p.Ile137Phe
NM_001172292.1:c.409A>T (NIPAL4) NP_001165763.1:p.Ile137Phe
XM_011534552.1:c.-87A>T (NIPAL4) XP_011532854.1:n.-87A>T
XM_024446043.1:c.-234A>T (NIPAL4) XP_024301811.1:n.-234A>T
NM_001099287.2:c.223A>T (NIPAL4) MANE Select NP_001092757.2:p.Ile75Phe