Canonical Allele Identifier: CA2838220836

Gene: SLC5A9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.48238784G>A , CM000663.2:g.48238784G>A	GRCh38
NC_000001.10:g.48704456G>A , CM000663.1:g.48704456G>A	GRCh37
NC_000001.9:g.48477043G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438567.7:c.1462-538G>A MANE Select	ENSP00000401730.2:n.1462-538G>A
ENST00000236495.9:c.1537-538G>A	ENSP00000236495.5:n.1537-538G>A
ENST00000425816.5:c.*404-538G>A	ENSP00000404982.1:n.*404-538G>A
ENST00000438567.6:c.1462-538G>A	ENSP00000401730.2:n.1462-538G>A
ENST00000493837.6:n.2085-538G>A
ENST00000525901.1:n.151+208G>A
ENST00000533824.5:c.1525-538G>A	ENSP00000431900.1:n.1525-538G>A
NM_001011547.2:c.1462-538G>A	NP_001011547.2:n.1462-538G>A
NM_001135181.1:c.1537-538G>A	NP_001128653.1:n.1537-538G>A
XM_011540923.1:c.1654-538G>A	XP_011539225.1:n.1654-538G>A
XM_011540924.1:c.1576-538G>A	XP_011539226.1:n.1576-538G>A
XM_011540925.1:c.1654-538G>A	XP_011539227.1:n.1654-538G>A
XM_011540926.1:c.1294-538G>A	XP_011539228.1:n.1294-538G>A
XM_011540927.1:c.1177-538G>A	XP_011539229.1:n.1177-538G>A
XM_011540928.1:c.844-538G>A	XP_011539230.1:n.844-538G>A
XR_946573.1:n.2243-538G>A
XM_011540924.2:c.1576-538G>A	XP_011539226.1:n.1576-538G>A
XM_011540925.2:c.1654-538G>A	XP_011539227.1:n.1654-538G>A
XM_011540926.3:c.1294-538G>A	XP_011539228.1:n.1294-538G>A
XM_017000558.1:c.*817G>A	XP_016856047.1:n.*817G>A
XR_946573.2:n.3423-538G>A
NM_001011547.3:c.1462-538G>A MANE Select	NP_001011547.2:n.1462-538G>A
NM_001135181.2:c.1537-538G>A	NP_001128653.1:n.1537-538G>A