Canonical Allele Identifier: CA3534515
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

dbSNP Id: rs766625954

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463103T>C , CM000667.2:g.157463103T>C GRCh38
NC_000005.9:g.156890111T>C , CM000667.1:g.156890111T>C GRCh37
NC_000005.8:g.156822689T>C NCBI36
NG_016626.1:g.8085T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.47T>C (NIPAL4) MANE Select ENSP00000311687.8:p.Leu16Pro
ENST00000435489.7:c.47T>C (NIPAL4) ENSP00000406456.3:p.Leu16Pro
ENST00000311946.7:c.233T>C (NIPAL4) ENSP00000311687.7:p.Leu78Pro
ENST00000435489.6:c.233T>C (NIPAL4) ENSP00000406456.2:p.Leu78Pro
ENST00000517951.5:c.*1741+25162A>G (ADAM19) ENSP00000428376.1:n.*1741+25162A>G
ENST00000519150.1:c.145T>C (NIPAL4) ENSP00000430810.1:p.Ser49Pro
ENST00000519946.1:n.261T>C (NIPAL4)
ENST00000521390.5:n.152T>C (NIPAL4)
NM_001099287.1:c.233T>C (NIPAL4) NP_001092757.1:p.Leu78Pro
NM_001172292.1:c.233T>C (NIPAL4) NP_001165763.1:p.Leu78Pro
XM_011534552.1:c.-263T>C (NIPAL4) XP_011532854.1:n.-263T>C
XM_024446043.1:c.-410T>C (NIPAL4) XP_024301811.1:n.-410T>C
NM_001099287.2:c.47T>C (NIPAL4) MANE Select NP_001092757.2:p.Leu16Pro