Canonical Allele Identifier: CA5365012
Gene: SLC34A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 500128
ClinVar RCV Id: RCV000594401 RCV000908978 RCV003945407
dbSNP Id: rs146757110
ExAC: 9:140130678 G / A
gnomAD v2: 9-140130678-G-A
gnomAD v3: 9-137236226-G-A
gnomAD v4: 9-137236226-G-A
MyVariant Identifiers: chr9:g.140130678G>A (hg19) chr9:g.137236226G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137236226G>A , CM000671.2:g.137236226G>A GRCh38
NC_000009.11:g.140130678G>A , CM000671.1:g.140130678G>A GRCh37
NC_000009.10:g.139250499G>A NCBI36
NG_017008.1:g.10470G>A
NG_017008.2:g.10326G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673835.1:c.1610G>A MANE Select ENSP00000501114.1:p.Arg537His
ENST00000361134.2:c.1610G>A ENSP00000355353.2:p.Arg537His
ENST00000538474.5:c.1610G>A ENSP00000442397.1:p.Arg537His
NM_001177316.1:c.1610G>A NP_001170787.1:p.Arg537His
NM_001177317.1:c.1610G>A NP_001170788.1:p.Arg537His
NM_080877.2:c.1610G>A NP_543153.1:p.Arg537His
XM_017014292.1:c.1610G>A XP_016869781.1:p.Arg537His
NM_001177316.2:c.1610G>A MANE Select NP_001170787.2:p.Arg537His
NM_001177317.2:c.1610G>A NP_001170788.2:p.Arg537His
NM_080877.3:c.1610G>A NP_543153.2:p.Arg537His
Search 100 bp 5'
Search 100 bp 3'