Canonical Allele Identifier: CA3011492907

Gene: SLC20A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112653250T>G , CM000664.2:g.112653250T>G	GRCh38
NC_000002.11:g.113410827T>G , CM000664.1:g.113410827T>G	GRCh37
NC_000002.10:g.113127298T>G	NCBI36
NG_028281.1:g.12394T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005415.5:c.658+452T>G MANE Select	NP_005406.3:n.658+452T>G
ENST00000272542.8:c.658+452T>G MANE Select	ENSP00000272542.3:n.658+452T>G
NM_005415.4:c.658+452T>G	NP_005406.3:n.658+452T>G
ENST00000272542.7:c.658+452T>G	ENSP00000272542.3:n.658+452T>G
ENST00000413135.1:c.118+452T>G	ENSP00000413393.1:n.118+452T>G
ENST00000423633.5:c.563T>G
ENST00000433924.5:c.134+452T>G
ENST00000456264.5:c.191+303T>G
ENST00000480984.1:n.224+452T>G
ENST00000498224.5:n.213+452T>G
XM_005263743.1:c.-102+303T>G	XP_005263800.1:n.-102+303T>G
XM_011511686.1:c.517+452T>G	XP_011509988.1:n.517+452T>G
XM_017004770.2:c.-102+303T>G	XP_016860259.1:n.-102+303T>G
XM_017004771.2:c.-102+303T>G	XP_016860260.1:n.-102+303T>G
XM_024453052.1:c.19+452T>G	XP_024308820.1:n.19+452T>G