Canonical Allele Identifier: CA447676969
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.156890163C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463155C>A , CM000667.2:g.157463155C>A GRCh38
NC_000005.9:g.156890163C>A , CM000667.1:g.156890163C>A GRCh37
NC_000005.8:g.156822741C>A NCBI36
NG_016626.1:g.8137C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.99C>A (NIPAL4) MANE Select ENSP00000311687.8:p.Leu33=
ENST00000435489.7:c.99C>A (NIPAL4) ENSP00000406456.3:p.Leu33=
ENST00000311946.7:c.285C>A (NIPAL4) ENSP00000311687.7:p.Leu95=
ENST00000435489.6:c.285C>A (NIPAL4) ENSP00000406456.2:p.Leu95=
ENST00000517951.5:c.*1741+25110G>T (ADAM19) ENSP00000428376.1:n.*1741+25110G>T
ENST00000519150.1:c.197C>A (NIPAL4) ENSP00000430810.1:p.Ser66Ter
ENST00000519946.1:n.313C>A (NIPAL4)
ENST00000521390.5:n.204C>A (NIPAL4)
NM_001099287.1:c.285C>A (NIPAL4) NP_001092757.1:p.Leu95=
NM_001172292.1:c.285C>A (NIPAL4) NP_001165763.1:p.Leu95=
XM_011534552.1:c.-211C>A (NIPAL4) XP_011532854.1:n.-211C>A
XM_024446043.1:c.-358C>A (NIPAL4) XP_024301811.1:n.-358C>A
NM_001099287.2:c.99C>A (NIPAL4) MANE Select NP_001092757.2:p.Leu33=