Canonical Allele Identifier: CA3580492

Gene: SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177387994G>A , CM000667.2:g.177387994G>A	GRCh38
NC_000005.9:g.176814995G>A , CM000667.1:g.176814995G>A	GRCh37
NC_000005.8:g.176747601G>A	NCBI36
NG_016223.1:g.8564G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003052.5:c.645G>A MANE Select	NP_003043.3:p.Arg215=
ENST00000324417.6:c.645G>A MANE Select	ENSP00000321424.4:p.Arg215=
NM_001167579.1:c.645G>A	NP_001161051.1:p.Arg215=
NM_001167579.2:c.645G>A	NP_001161051.1:p.Arg215=
NM_003052.4:c.645G>A	NP_003043.3:p.Arg215=
ENST00000324417.5:c.645G>A	ENSP00000321424.4:p.Arg215=
ENST00000507685.5:n.849G>A
ENST00000512593.5:c.645G>A	ENSP00000423022.1:p.Arg215=
XM_005265975.1:c.645G>A	XP_005266032.1:p.Arg215=
XM_017009773.2:c.645G>A	XP_016865262.1:p.Arg215=
XM_017009775.2:c.645G>A	XP_016865264.1:p.Arg215=
XM_024446191.1:c.645G>A	XP_024301959.1:p.Arg215=
XR_941112.1:n.692G>A
XR_941112.2:n.746G>A
XR_941113.1:n.692G>A
XR_941113.2:n.746G>A