Canonical Allele Identifier: CA361972804
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471799T>A , CM000667.2:g.157471799T>A GRCh38
NC_000005.9:g.156898807T>A , CM000667.1:g.156898807T>A GRCh37
NC_000005.8:g.156831385T>A NCBI36
NG_016626.1:g.16781T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.568T>A (NIPAL4) MANE Select ENSP00000311687.8:p.Ser190Thr
ENST00000435489.7:c.511T>A (NIPAL4) ENSP00000406456.3:p.Ser171Thr
ENST00000311946.7:c.754T>A (NIPAL4) ENSP00000311687.7:p.Ser252Thr
ENST00000435489.6:c.697T>A (NIPAL4) ENSP00000406456.2:p.Ser233Thr
ENST00000517951.5:c.*1741+16466A>T (ADAM19) ENSP00000428376.1:n.*1741+16466A>T
ENST00000519150.1:c.666T>A (NIPAL4) ENSP00000430810.1:n.666T>A
NM_001099287.1:c.754T>A (NIPAL4) NP_001092757.1:p.Ser252Thr
NM_001172292.1:c.697T>A (NIPAL4) NP_001165763.1:p.Ser233Thr
XM_011534552.1:c.259T>A (NIPAL4) XP_011532854.1:p.Ser87Thr
XM_024446043.1:c.55T>A (NIPAL4) XP_024301811.1:p.Ser19Thr
NM_001099287.2:c.568T>A (NIPAL4) MANE Select NP_001092757.2:p.Ser190Thr