Canonical Allele Identifier: CA3580594

Gene: SLC34A1

Linked Data

• ClinVar Variation Id: 234928
• ClinVar RCV Id: RCV000223671 ; RCV000354958 ; RCV001157728
• dbSNP Id: rs200095793
• ExAC: 5:176820765 G / A
• gnomAD v2: 5-176820765-G-A
• gnomAD v3: 5-177393764-G-A
• gnomAD v4: 5-177393764-G-A
• MyVariant Identifiers: chr5:g.176820765G>A (hg19) ; chr5:g.177393764G>A (hg38)
• PubMed: PMID:26047794

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177393764G>A , CM000667.2:g.177393764G>A	GRCh38
NC_000005.9:g.176820765G>A , CM000667.1:g.176820765G>A	GRCh37
NC_000005.8:g.176753371G>A	NCBI36
NG_016223.1:g.14334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324417.6:c.1006+1G>A MANE Select	ENSP00000321424.4:n.1006+1G>A
ENST00000324417.5:c.1006+1G>A	ENSP00000321424.4:n.1006+1G>A
ENST00000507685.5:n.1297+1G>A
ENST00000513614.1:n.908+1G>A
NM_003052.4:c.1006+1G>A	NP_003043.3:n.1006+1G>A
XM_005265975.1:c.1006+1G>A	XP_005266032.1:n.1006+1G>A
XR_941112.1:n.1899+1G>A
XM_017009773.2:c.1006+1G>A	XP_016865262.1:n.1006+1G>A
XM_017009774.1:c.58+1G>A	XP_016865263.1:n.58+1G>A
XM_024446191.1:c.1006+1G>A	XP_024301959.1:n.1006+1G>A
XR_941112.2:n.1953+1G>A
NM_003052.5:c.1006+1G>A MANE Select	NP_003043.3:n.1006+1G>A