Canonical Allele Identifier: CA361972479
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157471688A>T
GRCh37 chr5:g.156898696A>T
Revel Score:
ENST00000435489 0.222
ENST00000311946 (MANE Select) 0.222
gnomAD v2:
5:156898696 A / T
gnomAD v4:
chr5-157471688-A-T
Joint Max Group AF 0.0000036 (NFE)
Exomes Max Group AF 0.00000382 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471688A>T , CM000667.2:g.157471688A>T GRCh38
NC_000005.9:g.156898696A>T , CM000667.1:g.156898696A>T GRCh37
NC_000005.8:g.156831274A>T NCBI36
NG_016626.1:g.16670A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.457A>T (NIPAL4) MANE Select ENSP00000311687.8:p.Ser153Cys
ENST00000435489.7:c.400A>T (NIPAL4) ENSP00000406456.3:p.Ser134Cys
ENST00000311946.7:c.643A>T (NIPAL4) ENSP00000311687.7:p.Ser215Cys
ENST00000435489.6:c.586A>T (NIPAL4) ENSP00000406456.2:p.Ser196Cys
ENST00000517951.5:c.*1741+16577T>A (ADAM19) ENSP00000428376.1:n.*1741+16577T>A
ENST00000519150.1:c.555A>T (NIPAL4) ENSP00000430810.1:n.555A>T
NM_001099287.1:c.643A>T (NIPAL4) NP_001092757.1:p.Ser215Cys
NM_001172292.1:c.586A>T (NIPAL4) NP_001165763.1:p.Ser196Cys
XM_011534552.1:c.148A>T (NIPAL4) XP_011532854.1:p.Ser50Cys
XM_024446043.1:c.-57A>T (NIPAL4) XP_024301811.1:n.-57A>T
NM_001099287.2:c.457A>T (NIPAL4) MANE Select NP_001092757.2:p.Ser153Cys
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