Canonical Allele Identifier: CA12519899
Gene: SLC13A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.123119926C>T , CM000669.2:g.123119926C>T GRCh38
NC_000007.13:g.122759980C>T , CM000669.1:g.122759980C>T GRCh37
NC_000007.12:g.122547216C>T NCBI36
NG_050641.1:g.85050G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000194130.7:c.1351-684G>A MANE Select ENSP00000194130.2:n.1351-684G>A
ENST00000194130.6:c.1351-684G>A ENSP00000194130.2:n.1351-684G>A
ENST00000427975.5:c.*1294-684G>A ENSP00000388403.1:n.*1294-684G>A
ENST00000439260.5:c.*1729-684G>A ENSP00000401417.1:n.*1729-684G>A
ENST00000539873.1:c.*1018-684G>A ENSP00000441309.1:n.*1018-684G>A
NM_022444.3:c.1351-684G>A NP_071889.2:n.1351-684G>A
XM_011516515.1:c.1519-684G>A XP_011514817.1:n.1519-684G>A
XM_011516516.1:c.1417-684G>A XP_011514818.1:n.1417-684G>A
XM_011516517.1:c.1327-684G>A XP_011514819.1:n.1327-684G>A
NM_001324400.1:c.979-684G>A NP_001311329.1:n.979-684G>A
XM_011516515.3:c.1519-684G>A XP_011514817.1:n.1519-684G>A
XM_011516516.3:c.1417-684G>A XP_011514818.1:n.1417-684G>A
XM_011516517.2:c.1327-684G>A XP_011514819.1:n.1327-684G>A
XM_017012554.1:c.1390-684G>A XP_016868043.1:n.1390-684G>A
XM_024446885.1:c.979-684G>A XP_024302653.1:n.979-684G>A
NM_022444.4:c.1351-684G>A MANE Select NP_071889.2:n.1351-684G>A
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