Canonical Allele Identifier: CA10621119
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157474316T>C
GRCh37 chr5:g.156901324T>C
gnomAD v2:
5:156901324 T / C
gnomAD v3:
5:157474316 T / C
gnomAD v4:
chr5-157474316-T-C
Joint Max Group AF 0.97534757 (EAS)
Genomes Max Group AF 0.97534757 (EAS)
Exomes Max Group AF 0.46952186 (NFE)
ClinVar Allele:
298563
ClinVar RCV:
RCV000282090
ClinVar Variation:
352543
dbSNP:
6556051
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157474316T>C , CM000667.2:g.157474316T>C GRCh38
NC_000005.9:g.156901324T>C , CM000667.1:g.156901324T>C GRCh37
NC_000005.8:g.156833902T>C NCBI36
NG_016626.1:g.19298T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.*1356T>C (NIPAL4) MANE Select ENSP00000311687.8:n.*1356T>C
ENST00000311946.7:c.*1356T>C (NIPAL4) ENSP00000311687.7:n.*1356T>C
ENST00000517951.5:c.*1741+13949A>G (ADAM19) ENSP00000428376.1:n.*1741+13949A>G
NM_001099287.1:c.*1356T>C (NIPAL4) NP_001092757.1:n.*1356T>C
NM_001172292.1:c.*1356T>C (NIPAL4) NP_001165763.1:n.*1356T>C
XM_011534552.1:c.*1356T>C (NIPAL4) XP_011532854.1:n.*1356T>C
XM_024446043.1:c.*1356T>C (NIPAL4) XP_024301811.1:n.*1356T>C
NM_001099287.2:c.*1356T>C (NIPAL4) MANE Select NP_001092757.2:n.*1356T>C
Search 100 bp 5'
Search 100 bp 3'