Canonical Allele Identifier: CA5364304

Gene: SLC34A3

Linked Data

• ClinVar Variation Id: 444092
• ClinVar RCV Id: RCV000513447 ; RCV001049041
• dbSNP Id: rs201293634
• ExAC: 9:140127157 T / C
• gnomAD v2: 9-140127157-T-C
• gnomAD v3: 9-137232705-T-C
• gnomAD v4: 9-137232705-T-C
• COSMIC: COSM3906017
• MyVariant Identifiers: chr9:g.140127157T>C (hg19) ; chr9:g.137232705T>C (hg38)
• PubMed: PMID:16358215

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137232705T>C , CM000671.2:g.137232705T>C	GRCh38
NC_000009.11:g.140127157T>C , CM000671.1:g.140127157T>C	GRCh37
NC_000009.10:g.139246978T>C	NCBI36
NG_017008.1:g.6949T>C
NG_017008.2:g.6805T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673835.1:c.304+2T>C MANE Select	ENSP00000501114.1:n.304+2T>C
ENST00000673865.1:c.304+2T>C	ENSP00000501101.1:n.304+2T>C
ENST00000673953.1:c.304+2T>C	ENSP00000501108.1:n.304+2T>C
ENST00000361134.2:c.304+2T>C	ENSP00000355353.2:n.304+2T>C
ENST00000538474.5:c.304+2T>C	ENSP00000442397.1:n.304+2T>C
NM_001177316.1:c.304+2T>C	NP_001170787.1:n.304+2T>C
NM_001177317.1:c.304+2T>C	NP_001170788.1:n.304+2T>C
NM_080877.2:c.304+2T>C	NP_543153.1:n.304+2T>C
XM_011518256.1:c.304+2T>C	XP_011516558.1:n.304+2T>C
XM_011518257.1:c.304+2T>C	XP_011516559.1:n.304+2T>C
XM_011518258.1:c.304+2T>C	XP_011516560.1:n.304+2T>C
XM_011518259.1:c.304+2T>C	XP_011516561.1:n.304+2T>C
XM_011518260.1:c.304+2T>C	XP_011516562.1:n.304+2T>C
XM_011518261.1:c.304+2T>C	XP_011516563.1:n.304+2T>C
XM_011518262.1:c.304+2T>C	XP_011516564.1:n.304+2T>C
XM_011518257.2:c.304+2T>C	XP_011516559.1:n.304+2T>C
XM_011518261.2:c.304+2T>C	XP_011516563.1:n.304+2T>C
XM_017014290.1:c.304+2T>C	XP_016869779.1:n.304+2T>C
XM_017014291.1:c.304+2T>C	XP_016869780.1:n.304+2T>C
XM_017014292.1:c.304+2T>C	XP_016869781.1:n.304+2T>C
NM_001177316.2:c.304+2T>C MANE Select	NP_001170787.2:n.304+2T>C
NM_001177317.2:c.304+2T>C	NP_001170788.2:n.304+2T>C
NM_080877.3:c.304+2T>C	NP_543153.2:n.304+2T>C