Canonical Allele Identifier: CA5364999

Gene: SLC34A3

Linked Data

• dbSNP Id: rs775416220
• ExAC: 9:140130641 G / A
• gnomAD v2: 9-140130641-G-A
• gnomAD v3: 9-137236189-G-A
• gnomAD v4: 9-137236189-G-A
• MyVariant Identifiers: chr9:g.140130641G>A (hg19) ; chr9:g.137236189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137236189G>A , CM000671.2:g.137236189G>A	GRCh38
NC_000009.11:g.140130641G>A , CM000671.1:g.140130641G>A	GRCh37
NC_000009.10:g.139250462G>A	NCBI36
NG_017008.1:g.10433G>A
NG_017008.2:g.10289G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673835.1:c.1573G>A MANE Select	ENSP00000501114.1:p.Val525Met
ENST00000361134.2:c.1573G>A	ENSP00000355353.2:p.Val525Met
ENST00000538474.5:c.1573G>A	ENSP00000442397.1:p.Val525Met
NM_001177316.1:c.1573G>A	NP_001170787.1:p.Val525Met
NM_001177317.1:c.1573G>A	NP_001170788.1:p.Val525Met
NM_080877.2:c.1573G>A	NP_543153.1:p.Val525Met
XM_017014292.1:c.1573G>A	XP_016869781.1:p.Val525Met
NM_001177316.2:c.1573G>A MANE Select	NP_001170787.2:p.Val525Met
NM_001177317.2:c.1573G>A	NP_001170788.2:p.Val525Met
NM_080877.3:c.1573G>A	NP_543153.2:p.Val525Met