Canonical Allele Identifier: CA340067641
Gene: SLC6A9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44000808A>C , CM000663.2:g.44000808A>C GRCh38
NC_000001.10:g.44466480A>C , CM000663.1:g.44466480A>C GRCh37
NC_000001.9:g.44239067A>C NCBI36
NG_050929.1:g.35685T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372310.8:c.1495T>G MANE Select ENSP00000361384.4:p.Phe499Val
ENST00000673836.1:c.1495T>G ENSP00000501314.1:p.Phe499Val
ENST00000357730.6:c.1552T>G ENSP00000350362.2:p.Phe518Val
ENST00000360584.6:c.1714T>G ENSP00000353791.2:p.Phe572Val
ENST00000372306.7:c.1583T>G ENSP00000361380.3:p.Leu528Arg
ENST00000372307.7:c.1300T>G ENSP00000361381.3:p.Phe434Val
ENST00000372310.7:c.1495T>G ENSP00000361384.3:p.Phe499Val
ENST00000475075.6:c.1162T>G ENSP00000434460.1:p.Phe388Val
NM_001024845.2:c.1495T>G NP_001020016.1:p.Phe499Val
NM_001261380.1:c.1507T>G NP_001248309.1:p.Phe503Val
NM_006934.3:c.1552T>G NP_008865.2:p.Phe518Val
NM_201649.3:c.1714T>G NP_964012.2:p.Phe572Val
NR_048548.1:n.1755T>G
NR_048549.1:n.1478T>G
XM_011542017.1:c.1714T>G XP_011540319.1:p.Phe572Val
NM_001328626.1:c.1162T>G NP_001315555.1:p.Phe388Val
NM_001328627.1:c.1432T>G NP_001315556.1:p.Phe478Val
NM_001328628.1:c.1300T>G NP_001315557.1:p.Phe434Val
NM_001328629.1:c.1495T>G NP_001315558.1:p.Phe499Val
NM_001328630.1:c.1162T>G NP_001315559.1:p.Phe388Val
XM_011542017.2:c.1714T>G XP_011540319.1:p.Phe572Val
XM_017002152.2:c.1414T>G XP_016857641.1:p.Phe472Val
XM_017002153.2:c.1381T>G XP_016857642.1:p.Phe461Val
XM_024449295.1:c.1300T>G XP_024305063.1:p.Phe434Val
NM_001024845.3:c.1495T>G MANE Select NP_001020016.1:p.Phe499Val
NM_001261380.2:c.1507T>G NP_001248309.1:p.Phe503Val
NM_001328626.2:c.1162T>G NP_001315555.1:p.Phe388Val
NM_001328630.2:c.1162T>G NP_001315559.1:p.Phe388Val
NM_006934.4:c.1552T>G NP_008865.2:p.Phe518Val
NM_201649.4:c.1714T>G NP_964012.2:p.Phe572Val
NR_048548.2:n.1578T>G