Canonical Allele Identifier: CA645509479

Gene: SLC34A3

Linked Data

• ClinVar Variation Id: 438692
• ClinVar RCV Id: RCV000505556
• dbSNP Id: rs1554785333
• gnomAD v4: 9-137236167-C-CG
• MyVariant Identifiers: chr9:g.140130624dup (hg19) ; chr9:g.137236172dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137236172dup , CM000671.2:g.137236172dup	GRCh38
NC_000009.11:g.140130624dup , CM000671.1:g.140130624dup	GRCh37
NC_000009.10:g.139250445dup	NCBI36
NG_017008.1:g.10416dup
NG_017008.2:g.10272dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000673835.1:c.1556dup MANE Select	ENSP00000501114.1:p.Pro520SerfsTer?
ENST00000361134.2:c.1556dup	ENSP00000355353.2:p.Pro520SerfsTer?
ENST00000538474.5:c.1556dup	ENSP00000442397.1:p.Pro520SerfsTer?
NM_001177316.1:c.1556dup	NP_001170787.1:p.Pro520SerfsTer?
NM_001177317.1:c.1556dup	NP_001170788.1:p.Pro520SerfsTer?
NM_080877.2:c.1556dup	NP_543153.1:p.Pro520SerfsTer?
XM_017014292.1:c.1556dup	XP_016869781.1:p.Pro520SerfsTer?
NM_001177316.2:c.1556dup MANE Select	NP_001170787.2:p.Pro520SerfsTer?
NM_001177317.2:c.1556dup	NP_001170788.2:p.Pro520SerfsTer?
NM_080877.3:c.1556dup	NP_543153.2:p.Pro520SerfsTer?