Canonical Allele Identifier: CA447431442
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471801C>A , CM000667.2:g.157471801C>A GRCh38
NC_000005.9:g.156898809C>A , CM000667.1:g.156898809C>A GRCh37
NC_000005.8:g.156831387C>A NCBI36
NG_016626.1:g.16783C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.570C>A (NIPAL4) MANE Select ENSP00000311687.8:p.Ser190=
ENST00000435489.7:c.513C>A (NIPAL4) ENSP00000406456.3:p.Ser171=
ENST00000311946.7:c.756C>A (NIPAL4) ENSP00000311687.7:p.Ser252=
ENST00000435489.6:c.699C>A (NIPAL4) ENSP00000406456.2:p.Ser233=
ENST00000517951.5:c.*1741+16464G>T (ADAM19) ENSP00000428376.1:n.*1741+16464G>T
ENST00000519150.1:c.668C>A (NIPAL4) ENSP00000430810.1:n.668C>A
NM_001099287.1:c.756C>A (NIPAL4) NP_001092757.1:p.Ser252=
NM_001172292.1:c.699C>A (NIPAL4) NP_001165763.1:p.Ser233=
XM_011534552.1:c.261C>A (NIPAL4) XP_011532854.1:p.Ser87=
XM_024446043.1:c.57C>A (NIPAL4) XP_024301811.1:p.Ser19=
NM_001099287.2:c.570C>A (NIPAL4) MANE Select NP_001092757.2:p.Ser190=