Canonical Allele Identifier: CA130149079
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157471575G>C
GRCh37 chr5:g.156898583G>C
gnomAD v2:
5:156898583 G / C
gnomAD v3:
5:157471575 G / C
gnomAD v4:
chr5-157471575-G-C
Joint Max Group AF 0.02463135 (AFR)
Genomes Max Group AF 0.02488713 (AFR)
Exomes Max Group AF 0.02300468 (AFR)
dbSNP:
6878792
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471575G>C , CM000667.2:g.157471575G>C GRCh38
NC_000005.9:g.156898583G>C , CM000667.1:g.156898583G>C GRCh37
NC_000005.8:g.156831161G>C NCBI36
NG_016626.1:g.16557G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.426-82G>C (NIPAL4) MANE Select ENSP00000311687.8:n.426-82G>C
ENST00000435489.7:c.369-82G>C (NIPAL4) ENSP00000406456.3:n.369-82G>C
ENST00000311946.7:c.612-82G>C (NIPAL4) ENSP00000311687.7:n.612-82G>C
ENST00000435489.6:c.555-82G>C (NIPAL4) ENSP00000406456.2:n.555-82G>C
ENST00000517951.5:c.*1741+16690C>G (ADAM19) ENSP00000428376.1:n.*1741+16690C>G
ENST00000519150.1:c.524-82G>C (NIPAL4) ENSP00000430810.1:n.524-82G>C
NM_001099287.1:c.612-82G>C (NIPAL4) NP_001092757.1:n.612-82G>C
NM_001172292.1:c.555-82G>C (NIPAL4) NP_001165763.1:n.555-82G>C
XM_011534552.1:c.117-82G>C (NIPAL4) XP_011532854.1:n.117-82G>C
XM_024446043.1:c.-88-82G>C (NIPAL4) XP_024301811.1:n.-88-82G>C
NM_001099287.2:c.426-82G>C (NIPAL4) MANE Select NP_001092757.2:n.426-82G>C
Search 100 bp 5'
Search 100 bp 3'