Canonical Allele Identifier: CA5364976

Gene: SLC34A3

Linked Data

• dbSNP Id: rs772583230
• ExAC: 9:140130575 G / A
• gnomAD v2: 9-140130575-G-A
• gnomAD v4: 9-137236123-G-A
• MyVariant Identifiers: chr9:g.140130575G>A (hg19) ; chr9:g.137236123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137236123G>A , CM000671.2:g.137236123G>A	GRCh38
NC_000009.11:g.140130575G>A , CM000671.1:g.140130575G>A	GRCh37
NC_000009.10:g.139250396G>A	NCBI36
NG_017008.1:g.10367G>A
NG_017008.2:g.10223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673835.1:c.1507G>A MANE Select	ENSP00000501114.1:p.Ala503Thr
ENST00000361134.2:c.1507G>A	ENSP00000355353.2:p.Ala503Thr
ENST00000538474.5:c.1507G>A	ENSP00000442397.1:p.Ala503Thr
NM_001177316.1:c.1507G>A	NP_001170787.1:p.Ala503Thr
NM_001177317.1:c.1507G>A	NP_001170788.1:p.Ala503Thr
NM_080877.2:c.1507G>A	NP_543153.1:p.Ala503Thr
XM_017014291.1:c.*66G>A	XP_016869780.1:n.*66G>A
XM_017014292.1:c.1507G>A	XP_016869781.1:p.Ala503Thr
NM_001177316.2:c.1507G>A MANE Select	NP_001170787.2:p.Ala503Thr
NM_001177317.2:c.1507G>A	NP_001170788.2:p.Ala503Thr
NM_080877.3:c.1507G>A	NP_543153.2:p.Ala503Thr