Canonical Allele Identifier: CA3580394

Gene: SLC34A1

Linked Data

• ClinVar Variation Id: 234927
• ClinVar RCV Id: RCV000223664 ; RCV000778761 ; RCV003233505 ; RCV002500742
• dbSNP Id: rs769409705
• ExAC: 5:176813493 G / T
• gnomAD v2: 5-176813493-G-T
• gnomAD v3: 5-177386492-G-T
• gnomAD v4: 5-177386492-G-T
• MyVariant Identifiers: chr5:g.176813493G>T (hg19) ; chr5:g.177386492G>T (hg38)
• PubMed: PMID:26047794

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177386492G>T , CM000667.2:g.177386492G>T	GRCh38
NC_000005.9:g.176813493G>T , CM000667.1:g.176813493G>T	GRCh37
NC_000005.8:g.176746099G>T	NCBI36
NG_016223.1:g.7062G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324417.6:c.458G>T MANE Select	ENSP00000321424.4:p.Gly153Val
ENST00000324417.5:c.458G>T	ENSP00000321424.4:p.Gly153Val
ENST00000507685.5:n.542G>T
ENST00000512593.5:c.458G>T	ENSP00000423022.1:p.Gly153Val
NM_001167579.1:c.458G>T	NP_001161051.1:p.Gly153Val
NM_003052.4:c.458G>T	NP_003043.3:p.Gly153Val
XM_005265975.1:c.458G>T	XP_005266032.1:p.Gly153Val
XR_941112.1:n.505G>T
XR_941113.1:n.505G>T
XM_017009773.2:c.458G>T	XP_016865262.1:p.Gly153Val
XM_017009775.2:c.458G>T	XP_016865264.1:p.Gly153Val
XM_024446191.1:c.458G>T	XP_024301959.1:p.Gly153Val
XR_941112.2:n.559G>T
XR_941113.2:n.559G>T
NM_003052.5:c.458G>T MANE Select	NP_003043.3:p.Gly153Val
NM_001167579.2:c.458G>T	NP_001161051.1:p.Gly153Val