Canonical Allele Identifier: CA5364995

Gene: SLC34A3

Linked Data

• ClinVar Variation Id: 2291262
• ClinVar RCV Id: RCV002859727
• dbSNP Id: rs770594137
• ExAC: 9:140130627 C / T
• gnomAD v2: 9-140130627-C-T
• gnomAD v3: 9-137236175-C-T
• gnomAD v4: 9-137236175-C-T
• MyVariant Identifiers: chr9:g.140130627C>T (hg19) ; chr9:g.137236175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137236175C>T , CM000671.2:g.137236175C>T	GRCh38
NC_000009.11:g.140130627C>T , CM000671.1:g.140130627C>T	GRCh37
NC_000009.10:g.139250448C>T	NCBI36
NG_017008.1:g.10419C>T
NG_017008.2:g.10275C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673835.1:c.1559C>T MANE Select	ENSP00000501114.1:p.Pro520Leu
ENST00000361134.2:c.1559C>T	ENSP00000355353.2:p.Pro520Leu
ENST00000538474.5:c.1559C>T	ENSP00000442397.1:p.Pro520Leu
NM_001177316.1:c.1559C>T	NP_001170787.1:p.Pro520Leu
NM_001177317.1:c.1559C>T	NP_001170788.1:p.Pro520Leu
NM_080877.2:c.1559C>T	NP_543153.1:p.Pro520Leu
XM_017014292.1:c.1559C>T	XP_016869781.1:p.Pro520Leu
NM_001177316.2:c.1559C>T MANE Select	NP_001170787.2:p.Pro520Leu
NM_001177317.2:c.1559C>T	NP_001170788.2:p.Pro520Leu
NM_080877.3:c.1559C>T	NP_543153.2:p.Pro520Leu