Canonical Allele Identifier: CA201083

Gene: SLC34A3

Linked Data

• ClinVar Variation Id: 194276
• ClinVar RCV Id: RCV000174610 ; RCV000590116
• dbSNP Id: rs28591989
• ExAC: 9:140130882 A / C
• gnomAD v2: 9-140130882-A-C
• gnomAD v3: 9-137236430-A-C
• gnomAD v4: 9-137236430-A-C
• MyVariant Identifiers: chr9:g.140130882A>C (hg19) ; chr9:g.137236430A>C (hg38)
• PubMed: PMID:16358215

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137236430A>C , CM000671.2:g.137236430A>C	GRCh38
NC_000009.11:g.140130882A>C , CM000671.1:g.140130882A>C	GRCh37
NC_000009.10:g.139250703A>C	NCBI36
NG_017008.1:g.10674A>C
NG_017008.2:g.10530A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673835.1:c.*14A>C MANE Select	ENSP00000501114.1:n.*14A>C
ENST00000361134.2:c.*14A>C	ENSP00000355353.2:n.*14A>C
ENST00000538474.5:c.*14A>C	ENSP00000442397.1:n.*14A>C
NM_001177316.1:c.*14A>C	NP_001170787.1:n.*14A>C
NM_001177317.1:c.*14A>C	NP_001170788.1:n.*14A>C
NM_080877.2:c.*14A>C	NP_543153.1:n.*14A>C
XM_017014292.1:c.*14A>C	XP_016869781.1:n.*14A>C
NM_001177316.2:c.*14A>C MANE Select	NP_001170787.2:n.*14A>C
NM_001177317.2:c.*14A>C	NP_001170788.2:n.*14A>C
NM_080877.3:c.*14A>C	NP_543153.2:n.*14A>C