Canonical Allele Identifier: CA3534671
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157471781A>G
GRCh37 chr5:g.156898789A>G
Revel Score:
ENST00000435489 0.593
ENST00000311946 (MANE Select) 0.593
gnomAD v2:
5:156898789 A / G
gnomAD v3:
5:157471781 A / G
gnomAD v4:
chr5-157471781-A-G
Joint Max Group AF 0.00000905 (SAS)
Exomes Max Group AF 0.00000399 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471781A>G , CM000667.2:g.157471781A>G GRCh38
NC_000005.9:g.156898789A>G , CM000667.1:g.156898789A>G GRCh37
NC_000005.8:g.156831367A>G NCBI36
NG_016626.1:g.16763A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.550A>G (NIPAL4) MANE Select ENSP00000311687.8:p.Thr184Ala
ENST00000435489.7:c.493A>G (NIPAL4) ENSP00000406456.3:p.Thr165Ala
ENST00000311946.7:c.736A>G (NIPAL4) ENSP00000311687.7:p.Thr246Ala
ENST00000435489.6:c.679A>G (NIPAL4) ENSP00000406456.2:p.Thr227Ala
ENST00000517951.5:c.*1741+16484T>C (ADAM19) ENSP00000428376.1:n.*1741+16484T>C
ENST00000519150.1:c.648A>G (NIPAL4) ENSP00000430810.1:n.648A>G
NM_001099287.1:c.736A>G (NIPAL4) NP_001092757.1:p.Thr246Ala
NM_001172292.1:c.679A>G (NIPAL4) NP_001165763.1:p.Thr227Ala
XM_011534552.1:c.241A>G (NIPAL4) XP_011532854.1:p.Thr81Ala
XM_024446043.1:c.37A>G (NIPAL4) XP_024301811.1:p.Thr13Ala
NM_001099287.2:c.550A>G (NIPAL4) MANE Select NP_001092757.2:p.Thr184Ala
Search 100 bp 5'
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