Canonical Allele Identifier: CA11955078

Gene: SLC34A1

Linked Data

• dbSNP Id: rs6420094
• gnomAD v2: 5-176817636-A-G
• gnomAD v3: 5-177390635-A-G
• gnomAD v4: 5-177390635-A-G
• MyVariant Identifiers: chr5:g.176817636A>G (hg19) ; chr5:g.177390635A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177390635A>G , CM000667.2:g.177390635A>G	GRCh38
NC_000005.9:g.176817636A>G , CM000667.1:g.176817636A>G	GRCh37
NC_000005.8:g.176750242A>G	NCBI36
NG_016223.1:g.11205A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324417.6:c.936+2263A>G MANE Select	ENSP00000321424.4:n.936+2263A>G
ENST00000324417.5:c.936+2263A>G	ENSP00000321424.4:n.936+2263A>G
ENST00000507685.5:n.1227+2263A>G
ENST00000513614.1:n.838+151A>G
NM_003052.4:c.936+2263A>G	NP_003043.3:n.936+2263A>G
XM_005265975.1:c.936+2263A>G	XP_005266032.1:n.936+2263A>G
XR_941112.1:n.1829+151A>G
XR_941113.1:n.1878A>G
XM_017009773.2:c.936+2263A>G	XP_016865262.1:n.936+2263A>G
XM_017009774.1:c.-13+151A>G	XP_016865263.1:n.-13+151A>G
XM_024446191.1:c.936+2263A>G	XP_024301959.1:n.936+2263A>G
XR_941112.2:n.1883+151A>G
XR_941113.2:n.1932A>G
NM_003052.5:c.936+2263A>G MANE Select	NP_003043.3:n.936+2263A>G