Canonical Allele Identifier: CA251936
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

ClinVar Variation Id: 1729
dbSNP Id: rs199422216

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463303C>T , CM000667.2:g.157463303C>T GRCh38
NC_000005.9:g.156890311C>T , CM000667.1:g.156890311C>T GRCh37
NC_000005.8:g.156822889C>T NCBI36
NG_016626.1:g.8285C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000311946.8:c.247C>T (NIPAL4) MANE Select ENSP00000311687.8:p.Arg83Ter
ENST00000435489.7:c.247C>T (NIPAL4) ENSP00000406456.3:p.Arg83Ter
ENST00000311946.7:c.433C>T (NIPAL4) ENSP00000311687.7:p.Arg145Ter
ENST00000435489.6:c.433C>T (NIPAL4) ENSP00000406456.2:p.Arg145Ter
ENST00000517951.5:c.*1741+24962G>A (ADAM19) ENSP00000428376.1:n.*1741+24962G>A
ENST00000519150.1:c.345C>T (NIPAL4) ENSP00000430810.1:p.Cys115=
ENST00000519946.1:n.461C>T (NIPAL4)
ENST00000521390.5:n.352C>T (NIPAL4)
NM_001099287.1:c.433C>T (NIPAL4) NP_001092757.1:p.Arg145Ter
NM_001172292.1:c.433C>T (NIPAL4) NP_001165763.1:p.Arg145Ter
XM_011534552.1:c.-63C>T (NIPAL4) XP_011532854.1:n.-63C>T
XM_024446043.1:c.-210C>T (NIPAL4) XP_024301811.1:n.-210C>T
NM_001099287.2:c.247C>T (NIPAL4) MANE Select NP_001092757.2:p.Arg83Ter