Canonical Allele Identifier: CA361980067
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463185T>A , CM000667.2:g.157463185T>A GRCh38
NC_000005.9:g.156890193T>A , CM000667.1:g.156890193T>A GRCh37
NC_000005.8:g.156822771T>A NCBI36
NG_016626.1:g.8167T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.129T>A (NIPAL4) MANE Select ENSP00000311687.8:p.Phe43Leu
ENST00000435489.7:c.129T>A (NIPAL4) ENSP00000406456.3:p.Phe43Leu
ENST00000311946.7:c.315T>A (NIPAL4) ENSP00000311687.7:p.Phe105Leu
ENST00000435489.6:c.315T>A (NIPAL4) ENSP00000406456.2:p.Phe105Leu
ENST00000517951.5:c.*1741+25080A>T (ADAM19) ENSP00000428376.1:n.*1741+25080A>T
ENST00000519150.1:c.227T>A (NIPAL4) ENSP00000430810.1:p.Phe76Tyr
ENST00000519946.1:n.343T>A (NIPAL4)
ENST00000521390.5:n.234T>A (NIPAL4)
NM_001099287.1:c.315T>A (NIPAL4) NP_001092757.1:p.Phe105Leu
NM_001172292.1:c.315T>A (NIPAL4) NP_001165763.1:p.Phe105Leu
XM_011534552.1:c.-181T>A (NIPAL4) XP_011532854.1:n.-181T>A
XM_024446043.1:c.-328T>A (NIPAL4) XP_024301811.1:n.-328T>A
NM_001099287.2:c.129T>A (NIPAL4) MANE Select NP_001092757.2:p.Phe43Leu