Canonical Allele Identifier: CA16044004
Gene: SLC6A9 HGNC NCBI

Linked Data

ClinVar Variation Id: 374987
ClinVar RCV Id: RCV000415706
dbSNP Id: rs1057519314

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44000805G>A , CM000663.2:g.44000805G>A GRCh38
NC_000001.10:g.44466477G>A , CM000663.1:g.44466477G>A GRCh37
NC_000001.9:g.44239064G>A NCBI36
NG_050929.1:g.35688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372310.8:c.1498C>T MANE Select ENSP00000361384.4:p.Gln500Ter
ENST00000673836.1:c.1498C>T ENSP00000501314.1:p.Gln500Ter
ENST00000357730.6:c.1555C>T ENSP00000350362.2:p.Gln519Ter
ENST00000360584.6:c.1717C>T ENSP00000353791.2:p.Gln573Ter
ENST00000372306.7:c.1586C>T ENSP00000361380.3:p.Ser529Leu
ENST00000372307.7:c.1303C>T ENSP00000361381.3:p.Gln435Ter
ENST00000372310.7:c.1498C>T ENSP00000361384.3:p.Gln500Ter
ENST00000475075.6:c.1165C>T ENSP00000434460.1:p.Gln389Ter
NM_001024845.2:c.1498C>T NP_001020016.1:p.Gln500Ter
NM_001261380.1:c.1510C>T NP_001248309.1:p.Gln504Ter
NM_006934.3:c.1555C>T NP_008865.2:p.Gln519Ter
NM_201649.3:c.1717C>T NP_964012.2:p.Gln573Ter
NR_048548.1:n.1758C>T
NR_048549.1:n.1481C>T
XM_011542017.1:c.1717C>T XP_011540319.1:p.Gln573Ter
NM_001328626.1:c.1165C>T NP_001315555.1:p.Gln389Ter
NM_001328627.1:c.1435C>T NP_001315556.1:p.Gln479Ter
NM_001328628.1:c.1303C>T NP_001315557.1:p.Gln435Ter
NM_001328629.1:c.1498C>T NP_001315558.1:p.Gln500Ter
NM_001328630.1:c.1165C>T NP_001315559.1:p.Gln389Ter
XM_011542017.2:c.1717C>T XP_011540319.1:p.Gln573Ter
XM_017002152.2:c.1417C>T XP_016857641.1:p.Gln473Ter
XM_017002153.2:c.1384C>T XP_016857642.1:p.Gln462Ter
XM_024449295.1:c.1303C>T XP_024305063.1:p.Gln435Ter
NM_001024845.3:c.1498C>T MANE Select NP_001020016.1:p.Gln500Ter
NM_001261380.2:c.1510C>T NP_001248309.1:p.Gln504Ter
NM_001328626.2:c.1165C>T NP_001315555.1:p.Gln389Ter
NM_001328630.2:c.1165C>T NP_001315559.1:p.Gln389Ter
NM_006934.4:c.1555C>T NP_008865.2:p.Gln519Ter
NM_201649.4:c.1717C>T NP_964012.2:p.Gln573Ter
NR_048548.2:n.1581C>T