Canonical Allele Identifier: CA2838201081

Gene: SLC5A9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.48240749C>A , CM000663.2:g.48240749C>A	GRCh38
NC_000001.10:g.48706421C>A , CM000663.1:g.48706421C>A	GRCh37
NC_000001.9:g.48479008C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438567.7:c.1677+1212C>A MANE Select	ENSP00000401730.2:n.1677+1212C>A
ENST00000236495.9:c.1752+1212C>A	ENSP00000236495.5:n.1752+1212C>A
ENST00000425816.5:c.*619+1212C>A	ENSP00000404982.1:n.*619+1212C>A
ENST00000438567.6:c.1677+1212C>A	ENSP00000401730.2:n.1677+1212C>A
ENST00000471020.1:n.137+229C>A
ENST00000493837.6:n.2300+1212C>A
ENST00000525901.1:n.367+1212C>A
ENST00000532322.5:c.152-1195C>A
ENST00000533824.5:c.1740+1212C>A	ENSP00000431900.1:n.1740+1212C>A
NM_001011547.2:c.1677+1212C>A	NP_001011547.2:n.1677+1212C>A
NM_001135181.1:c.1752+1212C>A	NP_001128653.1:n.1752+1212C>A
XM_011540923.1:c.1869+1212C>A	XP_011539225.1:n.1869+1212C>A
XM_011540924.1:c.1791+1212C>A	XP_011539226.1:n.1791+1212C>A
XM_011540925.1:c.1869+1212C>A	XP_011539227.1:n.1869+1212C>A
XM_011540926.1:c.1509+1212C>A	XP_011539228.1:n.1509+1212C>A
XM_011540927.1:c.1392+1212C>A	XP_011539229.1:n.1392+1212C>A
XM_011540928.1:c.1059+1212C>A	XP_011539230.1:n.1059+1212C>A
XR_946573.1:n.2458+1212C>A
XM_011540924.2:c.1791+1212C>A	XP_011539226.1:n.1791+1212C>A
XM_011540925.2:c.1869+1212C>A	XP_011539227.1:n.1869+1212C>A
XM_011540926.3:c.1509+1212C>A	XP_011539228.1:n.1509+1212C>A
XR_946573.2:n.3638+1212C>A
NM_001011547.3:c.1677+1212C>A MANE Select	NP_001011547.2:n.1677+1212C>A
NM_001135181.2:c.1752+1212C>A	NP_001128653.1:n.1752+1212C>A