Canonical Allele Identifier: CA361980318
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

dbSNP Id: rs1754160759

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463294G>A , CM000667.2:g.157463294G>A GRCh38
NC_000005.9:g.156890302G>A , CM000667.1:g.156890302G>A GRCh37
NC_000005.8:g.156822880G>A NCBI36
NG_016626.1:g.8276G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.238G>A (NIPAL4) MANE Select ENSP00000311687.8:p.Gly80Ser
ENST00000435489.7:c.238G>A (NIPAL4) ENSP00000406456.3:p.Gly80Ser
ENST00000311946.7:c.424G>A (NIPAL4) ENSP00000311687.7:p.Gly142Ser
ENST00000435489.6:c.424G>A (NIPAL4) ENSP00000406456.2:p.Gly142Ser
ENST00000517951.5:c.*1741+24971C>T (ADAM19) ENSP00000428376.1:n.*1741+24971C>T
ENST00000519150.1:c.336G>A (NIPAL4) ENSP00000430810.1:p.Lys112=
ENST00000519946.1:n.452G>A (NIPAL4)
ENST00000521390.5:n.343G>A (NIPAL4)
NM_001099287.1:c.424G>A (NIPAL4) NP_001092757.1:p.Gly142Ser
NM_001172292.1:c.424G>A (NIPAL4) NP_001165763.1:p.Gly142Ser
XM_011534552.1:c.-72G>A (NIPAL4) XP_011532854.1:n.-72G>A
XM_024446043.1:c.-219G>A (NIPAL4) XP_024301811.1:n.-219G>A
NM_001099287.2:c.238G>A (NIPAL4) MANE Select NP_001092757.2:p.Gly80Ser