Canonical Allele Identifier: CA115018
Gene: SLC34A3 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.137233404G>A
GRCh37 chr9:g.140127856G>A
gnomAD v2:
9:140127856 G / A
gnomAD v3:
9:137233404 G / A
gnomAD v4:
chr9-137233404-G-A
Joint Max Group AF 0.00721864 (SAS)
Genomes Max Group AF 0.00447939 (SAS)
Exomes Max Group AF 0.0072858 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137233404G>A , CM000671.2:g.137233404G>A GRCh38
NC_000009.11:g.140127856G>A , CM000671.1:g.140127856G>A GRCh37
NC_000009.10:g.139247677G>A NCBI36
NG_017008.1:g.7648G>A
NG_017008.2:g.7504G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673835.1:c.756G>A MANE Select ENSP00000501114.1:p.Gln252=
ENST00000673865.1:c.756G>A ENSP00000501101.1:p.Gln252=
ENST00000361134.2:c.756G>A ENSP00000355353.2:p.Gln252=
ENST00000538474.5:c.756G>A ENSP00000442397.1:p.Gln252=
NM_001177316.1:c.756G>A NP_001170787.1:p.Gln252=
NM_001177317.1:c.756G>A NP_001170788.1:p.Gln252=
NM_080877.2:c.756G>A NP_543153.1:p.Gln252=
XM_011518256.1:c.756G>A XP_011516558.1:p.Gln252=
XM_011518257.1:c.756G>A XP_011516559.1:p.Gln252=
XM_011518258.1:c.756G>A XP_011516560.1:p.Gln252=
XM_011518259.1:c.756G>A XP_011516561.1:p.Gln252=
XM_011518260.1:c.756G>A XP_011516562.1:p.Gln252=
XM_011518261.1:c.756G>A XP_011516563.1:p.Gln252=
XM_011518262.1:c.756G>A XP_011516564.1:p.Gln252=
XM_011518257.2:c.756G>A XP_011516559.1:p.Gln252=
XM_011518261.2:c.756G>A XP_011516563.1:p.Gln252=
XM_017014290.1:c.756G>A XP_016869779.1:p.Gln252=
XM_017014291.1:c.756G>A XP_016869780.1:p.Gln252=
XM_017014292.1:c.756G>A XP_016869781.1:p.Gln252=
NM_001177316.2:c.756G>A MANE Select NP_001170787.2:p.Gln252=
NM_001177317.2:c.756G>A NP_001170788.2:p.Gln252=
NM_080877.3:c.756G>A NP_543153.2:p.Gln252=
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