Canonical Allele Identifier: CA5364937
Gene: SLC34A3 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.137236018C>A
GRCh37 chr9:g.140130470C>A
gnomAD v2:
9:140130470 C / A
gnomAD v3:
9:137236018 C / A
gnomAD v4:
chr9-137236018-C-A
Joint Max Group AF 0.00016898 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00017559 (NFE)
ClinVar RCV:
RCV002208462
RCV002481025
ClinVar Variation:
1674712
dbSNP:
121918238
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137236018C>A , CM000671.2:g.137236018C>A GRCh38
NC_000009.11:g.140130470C>A , CM000671.1:g.140130470C>A GRCh37
NC_000009.10:g.139250291C>A NCBI36
NG_017008.1:g.10262C>A
NG_017008.2:g.10118C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673835.1:c.1402C>A MANE Select ENSP00000501114.1:p.Arg468=
ENST00000361134.2:c.1402C>A ENSP00000355353.2:p.Arg468=
ENST00000538474.5:c.1402C>A ENSP00000442397.1:p.Arg468=
NM_001177316.1:c.1402C>A NP_001170787.1:p.Arg468=
NM_001177317.1:c.1402C>A NP_001170788.1:p.Arg468=
NM_080877.2:c.1402C>A NP_543153.1:p.Arg468=
XM_011518262.1:c.1785C>A XP_011516564.1:p.Cys595Ter
XM_017014291.1:c.1785C>A XP_016869780.1:p.Cys595Ter
XM_017014292.1:c.1402C>A XP_016869781.1:p.Arg468=
NM_001177316.2:c.1402C>A MANE Select NP_001170787.2:p.Arg468=
NM_001177317.2:c.1402C>A NP_001170788.2:p.Arg468=
NM_080877.3:c.1402C>A NP_543153.2:p.Arg468=
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