Canonical Allele Identifier: CA2574346075
Gene: SLC6A9 HGNC NCBI

Linked Data

gnomAD v4: 1-44000717-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44000717A>G , CM000663.2:g.44000717A>G GRCh38
NC_000001.10:g.44466389A>G , CM000663.1:g.44466389A>G GRCh37
NC_000001.9:g.44238976A>G NCBI36
NG_050929.1:g.35776T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372310.8:c.1536+50T>C MANE Select ENSP00000361384.4:n.1536+50T>C
ENST00000673836.1:c.1536+50T>C ENSP00000501314.1:n.1536+50T>C
ENST00000357730.6:c.1593+50T>C ENSP00000350362.2:n.1593+50T>C
ENST00000360584.6:c.1755+50T>C ENSP00000353791.2:n.1755+50T>C
ENST00000372306.7:c.1624+50T>C ENSP00000361380.3:n.1624+50T>C
ENST00000372307.7:c.1341+50T>C ENSP00000361381.3:n.1341+50T>C
ENST00000372310.7:c.1536+50T>C ENSP00000361384.3:n.1536+50T>C
ENST00000475075.6:c.1203+50T>C ENSP00000434460.1:n.1203+50T>C
NM_001024845.2:c.1536+50T>C NP_001020016.1:n.1536+50T>C
NM_001261380.1:c.1548+50T>C NP_001248309.1:n.1548+50T>C
NM_006934.3:c.1593+50T>C NP_008865.2:n.1593+50T>C
NM_201649.3:c.1755+50T>C NP_964012.2:n.1755+50T>C
NR_048548.1:n.1796+50T>C
NR_048549.1:n.1519+50T>C
XM_011542017.1:c.1755+50T>C XP_011540319.1:n.1755+50T>C
NM_001328626.1:c.1203+50T>C NP_001315555.1:n.1203+50T>C
NM_001328627.1:c.1473+50T>C NP_001315556.1:n.1473+50T>C
NM_001328628.1:c.1341+50T>C NP_001315557.1:n.1341+50T>C
NM_001328629.1:c.1536+50T>C NP_001315558.1:n.1536+50T>C
NM_001328630.1:c.1203+50T>C NP_001315559.1:n.1203+50T>C
XM_011542017.2:c.1755+50T>C XP_011540319.1:n.1755+50T>C
XM_017002152.2:c.1455+50T>C XP_016857641.1:n.1455+50T>C
XM_017002153.2:c.1422+50T>C XP_016857642.1:n.1422+50T>C
XM_024449295.1:c.1341+50T>C XP_024305063.1:n.1341+50T>C
NM_001024845.3:c.1536+50T>C MANE Select NP_001020016.1:n.1536+50T>C
NM_001261380.2:c.1548+50T>C NP_001248309.1:n.1548+50T>C
NM_001328626.2:c.1203+50T>C NP_001315555.1:n.1203+50T>C
NM_001328630.2:c.1203+50T>C NP_001315559.1:n.1203+50T>C
NM_006934.4:c.1593+50T>C NP_008865.2:n.1593+50T>C
NM_201649.4:c.1755+50T>C NP_964012.2:n.1755+50T>C
NR_048548.2:n.1619+50T>C