Canonical Allele Identifier: CA3534761
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157472735G>A
GRCh37 chr5:g.156899743G>A
gnomAD v2:
5:156899743 G / A
gnomAD v3:
5:157472735 G / A
gnomAD v4:
chr5-157472735-G-A
Joint Max Group AF 0.00001963 (NFE)
Exomes Max Group AF 0.00001998 (NFE)
ClinVar RCV:
RCV000290936
ClinVar Variation:
352522
dbSNP:
777285586
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157472735G>A , CM000667.2:g.157472735G>A GRCh38
NC_000005.9:g.156899743G>A , CM000667.1:g.156899743G>A GRCh37
NC_000005.8:g.156832321G>A NCBI36
NG_016626.1:g.17717G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.990G>A (NIPAL4) MANE Select ENSP00000311687.8:p.Ser330=
ENST00000435489.7:c.933G>A (NIPAL4) ENSP00000406456.3:p.Ser311=
ENST00000311946.7:c.1176G>A (NIPAL4) ENSP00000311687.7:p.Ser392=
ENST00000435489.6:c.1119G>A (NIPAL4) ENSP00000406456.2:p.Ser373=
ENST00000517951.5:c.*1741+15530C>T (ADAM19) ENSP00000428376.1:n.*1741+15530C>T
NM_001099287.1:c.1176G>A (NIPAL4) NP_001092757.1:p.Ser392=
NM_001172292.1:c.1119G>A (NIPAL4) NP_001165763.1:p.Ser373=
XM_011534552.1:c.681G>A (NIPAL4) XP_011532854.1:p.Ser227=
XM_024446043.1:c.477G>A (NIPAL4) XP_024301811.1:p.Ser159=
NM_001099287.2:c.990G>A (NIPAL4) MANE Select NP_001092757.2:p.Ser330=
Search 100 bp 5'
Search 100 bp 3'