Canonical Allele Identifier: CA5364994
Gene: SLC34A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 444095
ClinVar RCV Id: RCV000513018 RCV000522409 RCV003419882
dbSNP Id: rs765816079
ExAC: 9:140130625 T / TC
gnomAD v2: 9-140130625-T-TC
gnomAD v3: 9-137236173-T-TC
gnomAD v4: 9-137236173-T-TC
MyVariant Identifiers: chr9:g.140130629dupC (hg19) chr9:g.140130625_140130626insC (hg19) chr9:g.137236177dupC (hg38) chr9:g.137236173_137236174insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137236177dup , CM000671.2:g.137236177dup GRCh38
NC_000009.11:g.140130629dup , CM000671.1:g.140130629dup GRCh37
NC_000009.10:g.139250450dup NCBI36
NG_017008.1:g.10421dup
NG_017008.2:g.10277dup

Transcript Alleles

HGVS Amino-acid change
ENST00000673835.1:c.1561dup MANE Select ENSP00000501114.1:p.Leu521ProfsTer?
ENST00000361134.2:c.1561dup ENSP00000355353.2:p.Leu521ProfsTer?
ENST00000538474.5:c.1561dup ENSP00000442397.1:p.Leu521ProfsTer?
NM_001177316.1:c.1561dup NP_001170787.1:p.Leu521ProfsTer?
NM_001177317.1:c.1561dup NP_001170788.1:p.Leu521ProfsTer?
NM_080877.2:c.1561dup NP_543153.1:p.Leu521ProfsTer?
XM_017014292.1:c.1561dup XP_016869781.1:p.Leu521ProfsTer?
NM_001177316.2:c.1561dup MANE Select NP_001170787.2:p.Leu521ProfsTer?
NM_001177317.2:c.1561dup NP_001170788.2:p.Leu521ProfsTer?
NM_080877.3:c.1561dup NP_543153.2:p.Leu521ProfsTer?
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