Canonical Allele Identifier: CA10199441
Gene: SLC5A4 HGNC NCBI
SLC5A4-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32231058C>T , CM000684.2:g.32231058C>T GRCh38
NC_000022.10:g.32627045C>T , CM000684.1:g.32627045C>T GRCh37
NC_000022.9:g.30957045C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266086.6:c.1039G>A (SLC5A4) MANE Select ENSP00000266086.3:p.Val347Ile
ENST00000266086.5:c.1039G>A (SLC5A4) ENSP00000266086.3:p.Val347Ile
NM_014227.2:c.1039G>A (SLC5A4) NP_055042.1:p.Val347Ile
XM_006724308.2:c.901G>A (SLC5A4) XP_006724371.1:p.Val301Ile
XM_011530342.1:c.901G>A (SLC5A4) XP_011528644.1:p.Val301Ile
XM_011530343.1:c.901G>A (SLC5A4) XP_011528645.1:p.Val301Ile
XM_011530344.1:c.832G>A (SLC5A4) XP_011528646.1:p.Val278Ile
NR_149072.1:n.274+23782C>T (SLC5A4-AS1)
XM_006724308.3:c.901G>A (SLC5A4) XP_006724371.1:p.Val301Ile
XM_011530342.2:c.901G>A (SLC5A4) XP_011528644.1:p.Val301Ile
XM_011530343.2:c.901G>A (SLC5A4) XP_011528645.1:p.Val301Ile
XM_011530344.2:c.832G>A (SLC5A4) XP_011528646.1:p.Val278Ile
XM_017028920.1:c.1129G>A (SLC5A4) XP_016884409.1:p.Val377Ile
NM_014227.3:c.1039G>A (SLC5A4) MANE Select NP_055042.1:p.Val347Ile