Canonical Allele Identifier: CA447678133
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.156890262T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463254T>G , CM000667.2:g.157463254T>G GRCh38
NC_000005.9:g.156890262T>G , CM000667.1:g.156890262T>G GRCh37
NC_000005.8:g.156822840T>G NCBI36
NG_016626.1:g.8236T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.198T>G (NIPAL4) MANE Select ENSP00000311687.8:p.Ser66=
ENST00000435489.7:c.198T>G (NIPAL4) ENSP00000406456.3:p.Ser66=
ENST00000311946.7:c.384T>G (NIPAL4) ENSP00000311687.7:p.Ser128=
ENST00000435489.6:c.384T>G (NIPAL4) ENSP00000406456.2:p.Ser128=
ENST00000517951.5:c.*1741+25011A>C (ADAM19) ENSP00000428376.1:n.*1741+25011A>C
ENST00000519150.1:c.296T>G (NIPAL4) ENSP00000430810.1:p.Leu99Arg
ENST00000519946.1:n.412T>G (NIPAL4)
ENST00000521390.5:n.303T>G (NIPAL4)
NM_001099287.1:c.384T>G (NIPAL4) NP_001092757.1:p.Ser128=
NM_001172292.1:c.384T>G (NIPAL4) NP_001165763.1:p.Ser128=
XM_011534552.1:c.-112T>G (NIPAL4) XP_011532854.1:n.-112T>G
XM_024446043.1:c.-259T>G (NIPAL4) XP_024301811.1:n.-259T>G
NM_001099287.2:c.198T>G (NIPAL4) MANE Select NP_001092757.2:p.Ser66=