Canonical Allele Identifier: CA340067617
Gene: SLC6A9 HGNC NCBI

Linked Data

dbSNP Id: rs1188873365
gnomAD v2: 1-44466474-T-C
gnomAD v4: 1-44000802-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44000802T>C , CM000663.2:g.44000802T>C GRCh38
NC_000001.10:g.44466474T>C , CM000663.1:g.44466474T>C GRCh37
NC_000001.9:g.44239061T>C NCBI36
NG_050929.1:g.35691A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372310.8:c.1501A>G MANE Select ENSP00000361384.4:p.Ile501Val
ENST00000673836.1:c.1501A>G ENSP00000501314.1:p.Ile501Val
ENST00000357730.6:c.1558A>G ENSP00000350362.2:p.Ile520Val
ENST00000360584.6:c.1720A>G ENSP00000353791.2:p.Ile574Val
ENST00000372306.7:c.1589A>G ENSP00000361380.3:p.Asp530Gly
ENST00000372307.7:c.1306A>G ENSP00000361381.3:p.Ile436Val
ENST00000372310.7:c.1501A>G ENSP00000361384.3:p.Ile501Val
ENST00000475075.6:c.1168A>G ENSP00000434460.1:p.Ile390Val
NM_001024845.2:c.1501A>G NP_001020016.1:p.Ile501Val
NM_001261380.1:c.1513A>G NP_001248309.1:p.Ile505Val
NM_006934.3:c.1558A>G NP_008865.2:p.Ile520Val
NM_201649.3:c.1720A>G NP_964012.2:p.Ile574Val
NR_048548.1:n.1761A>G
NR_048549.1:n.1484A>G
XM_011542017.1:c.1720A>G XP_011540319.1:p.Ile574Val
NM_001328626.1:c.1168A>G NP_001315555.1:p.Ile390Val
NM_001328627.1:c.1438A>G NP_001315556.1:p.Ile480Val
NM_001328628.1:c.1306A>G NP_001315557.1:p.Ile436Val
NM_001328629.1:c.1501A>G NP_001315558.1:p.Ile501Val
NM_001328630.1:c.1168A>G NP_001315559.1:p.Ile390Val
XM_011542017.2:c.1720A>G XP_011540319.1:p.Ile574Val
XM_017002152.2:c.1420A>G XP_016857641.1:p.Ile474Val
XM_017002153.2:c.1387A>G XP_016857642.1:p.Ile463Val
XM_024449295.1:c.1306A>G XP_024305063.1:p.Ile436Val
NM_001024845.3:c.1501A>G MANE Select NP_001020016.1:p.Ile501Val
NM_001261380.2:c.1513A>G NP_001248309.1:p.Ile505Val
NM_001328626.2:c.1168A>G NP_001315555.1:p.Ile390Val
NM_001328630.2:c.1168A>G NP_001315559.1:p.Ile390Val
NM_006934.4:c.1558A>G NP_008865.2:p.Ile520Val
NM_201649.4:c.1720A>G NP_964012.2:p.Ile574Val
NR_048548.2:n.1584A>G