Canonical Allele Identifier: CA340067666
Gene: SLC6A9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2613343
ClinVar RCV Id: RCV003362292
gnomAD v4: 1-44000814-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44000814G>A , CM000663.2:g.44000814G>A GRCh38
NC_000001.10:g.44466486G>A , CM000663.1:g.44466486G>A GRCh37
NC_000001.9:g.44239073G>A NCBI36
NG_050929.1:g.35679C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372310.8:c.1489C>T MANE Select ENSP00000361384.4:p.Leu497Phe
ENST00000673836.1:c.1489C>T ENSP00000501314.1:p.Leu497Phe
ENST00000357730.6:c.1546C>T ENSP00000350362.2:p.Leu516Phe
ENST00000360584.6:c.1708C>T ENSP00000353791.2:p.Leu570Phe
ENST00000372306.7:c.1577C>T ENSP00000361380.3:p.Pro526Leu
ENST00000372307.7:c.1294C>T ENSP00000361381.3:p.Leu432Phe
ENST00000372310.7:c.1489C>T ENSP00000361384.3:p.Leu497Phe
ENST00000475075.6:c.1156C>T ENSP00000434460.1:p.Leu386Phe
NM_001024845.2:c.1489C>T NP_001020016.1:p.Leu497Phe
NM_001261380.1:c.1501C>T NP_001248309.1:p.Leu501Phe
NM_006934.3:c.1546C>T NP_008865.2:p.Leu516Phe
NM_201649.3:c.1708C>T NP_964012.2:p.Leu570Phe
NR_048548.1:n.1749C>T
NR_048549.1:n.1472C>T
XM_011542017.1:c.1708C>T XP_011540319.1:p.Leu570Phe
NM_001328626.1:c.1156C>T NP_001315555.1:p.Leu386Phe
NM_001328627.1:c.1426C>T NP_001315556.1:p.Leu476Phe
NM_001328628.1:c.1294C>T NP_001315557.1:p.Leu432Phe
NM_001328629.1:c.1489C>T NP_001315558.1:p.Leu497Phe
NM_001328630.1:c.1156C>T NP_001315559.1:p.Leu386Phe
XM_011542017.2:c.1708C>T XP_011540319.1:p.Leu570Phe
XM_017002152.2:c.1408C>T XP_016857641.1:p.Leu470Phe
XM_017002153.2:c.1375C>T XP_016857642.1:p.Leu459Phe
XM_024449295.1:c.1294C>T XP_024305063.1:p.Leu432Phe
NM_001024845.3:c.1489C>T MANE Select NP_001020016.1:p.Leu497Phe
NM_001261380.2:c.1501C>T NP_001248309.1:p.Leu501Phe
NM_001328626.2:c.1156C>T NP_001315555.1:p.Leu386Phe
NM_001328630.2:c.1156C>T NP_001315559.1:p.Leu386Phe
NM_006934.4:c.1546C>T NP_008865.2:p.Leu516Phe
NM_201649.4:c.1708C>T NP_964012.2:p.Leu570Phe
NR_048548.2:n.1572C>T