Canonical Allele Identifier: CA201087
Gene: SLC34A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 194278
ClinVar RCV Id: RCV000174612 RCV000889995 RCV000988312 RCV003955027
dbSNP Id: rs140639805
ExAC: 9:140130653 A / T
gnomAD v2: 9-140130653-A-T
gnomAD v3: 9-137236201-A-T
gnomAD v4: 9-137236201-A-T
MyVariant Identifiers: chr9:g.140130653A>T (hg19) chr9:g.137236201A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137236201A>T , CM000671.2:g.137236201A>T GRCh38
NC_000009.11:g.140130653A>T , CM000671.1:g.140130653A>T GRCh37
NC_000009.10:g.139250474A>T NCBI36
NG_017008.1:g.10445A>T
NG_017008.2:g.10301A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000673835.1:c.1585A>T MANE Select ENSP00000501114.1:p.Ile529Phe
ENST00000361134.2:c.1585A>T ENSP00000355353.2:p.Ile529Phe
ENST00000538474.5:c.1585A>T ENSP00000442397.1:p.Ile529Phe
NM_001177316.1:c.1585A>T NP_001170787.1:p.Ile529Phe
NM_001177317.1:c.1585A>T NP_001170788.1:p.Ile529Phe
NM_080877.2:c.1585A>T NP_543153.1:p.Ile529Phe
XM_017014292.1:c.1585A>T XP_016869781.1:p.Ile529Phe
NM_001177316.2:c.1585A>T MANE Select NP_001170787.2:p.Ile529Phe
NM_001177317.2:c.1585A>T NP_001170788.2:p.Ile529Phe
NM_080877.3:c.1585A>T NP_543153.2:p.Ile529Phe
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