Canonical Allele Identifier: CA5364274

Gene: SLC34A3

Linked Data

• ClinVar Variation Id: 1378083
• ClinVar RCV Id: RCV001880970
• dbSNP Id: rs774035480
• ExAC: 9:140127053 C / T
• gnomAD v2: 9-140127053-C-T
• gnomAD v3: 9-137232601-C-T
• gnomAD v4: 9-137232601-C-T
• MyVariant Identifiers: chr9:g.140127053C>T (hg19) ; chr9:g.137232601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137232601C>T , CM000671.2:g.137232601C>T	GRCh38
NC_000009.11:g.140127053C>T , CM000671.1:g.140127053C>T	GRCh37
NC_000009.10:g.139246874C>T	NCBI36
NG_017008.1:g.6845C>T
NG_017008.2:g.6701C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673835.1:c.202C>T MANE Select	ENSP00000501114.1:p.Arg68Cys
ENST00000673865.1:c.202C>T	ENSP00000501101.1:p.Arg68Cys
ENST00000673953.1:c.202C>T	ENSP00000501108.1:p.Arg68Cys
ENST00000361134.2:c.202C>T	ENSP00000355353.2:p.Arg68Cys
ENST00000538474.5:c.202C>T	ENSP00000442397.1:p.Arg68Cys
NM_001177316.1:c.202C>T	NP_001170787.1:p.Arg68Cys
NM_001177317.1:c.202C>T	NP_001170788.1:p.Arg68Cys
NM_080877.2:c.202C>T	NP_543153.1:p.Arg68Cys
XM_011518256.1:c.202C>T	XP_011516558.1:p.Arg68Cys
XM_011518257.1:c.202C>T	XP_011516559.1:p.Arg68Cys
XM_011518258.1:c.202C>T	XP_011516560.1:p.Arg68Cys
XM_011518259.1:c.202C>T	XP_011516561.1:p.Arg68Cys
XM_011518260.1:c.202C>T	XP_011516562.1:p.Arg68Cys
XM_011518261.1:c.202C>T	XP_011516563.1:p.Arg68Cys
XM_011518262.1:c.202C>T	XP_011516564.1:p.Arg68Cys
XM_011518257.2:c.202C>T	XP_011516559.1:p.Arg68Cys
XM_011518261.2:c.202C>T	XP_011516563.1:p.Arg68Cys
XM_017014290.1:c.202C>T	XP_016869779.1:p.Arg68Cys
XM_017014291.1:c.202C>T	XP_016869780.1:p.Arg68Cys
XM_017014292.1:c.202C>T	XP_016869781.1:p.Arg68Cys
NM_001177316.2:c.202C>T MANE Select	NP_001170787.2:p.Arg68Cys
NM_001177317.2:c.202C>T	NP_001170788.2:p.Arg68Cys
NM_080877.3:c.202C>T	NP_543153.2:p.Arg68Cys