Canonical Allele Identifier: CA130177388
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

dbSNP Id: rs895047629

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463159C>T , CM000667.2:g.157463159C>T GRCh38
NC_000005.9:g.156890167C>T , CM000667.1:g.156890167C>T GRCh37
NC_000005.8:g.156822745C>T NCBI36
NG_016626.1:g.8141C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.103C>T (NIPAL4) MANE Select ENSP00000311687.8:p.Pro35Ser
ENST00000435489.7:c.103C>T (NIPAL4) ENSP00000406456.3:p.Pro35Ser
ENST00000311946.7:c.289C>T (NIPAL4) ENSP00000311687.7:p.Pro97Ser
ENST00000435489.6:c.289C>T (NIPAL4) ENSP00000406456.2:p.Pro97Ser
ENST00000517951.5:c.*1741+25106G>A (ADAM19) ENSP00000428376.1:n.*1741+25106G>A
ENST00000519150.1:c.201C>T (NIPAL4) ENSP00000430810.1:p.Ala67=
ENST00000519946.1:n.317C>T (NIPAL4)
ENST00000521390.5:n.208C>T (NIPAL4)
NM_001099287.1:c.289C>T (NIPAL4) NP_001092757.1:p.Pro97Ser
NM_001172292.1:c.289C>T (NIPAL4) NP_001165763.1:p.Pro97Ser
XM_011534552.1:c.-207C>T (NIPAL4) XP_011532854.1:n.-207C>T
XM_024446043.1:c.-354C>T (NIPAL4) XP_024301811.1:n.-354C>T
NM_001099287.2:c.103C>T (NIPAL4) MANE Select NP_001092757.2:p.Pro35Ser