Canonical Allele Identifier: CA340067667

Gene: SLC6A9

Linked Data

• dbSNP Id: rs1212254658
• MyVariant Identifiers: chr1:g.44466486G>C (hg19) ; chr1:g.44000814G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372310.8:c.1489C>G MANE Select	ENSP00000361384.4:p.Leu497Val
ENST00000673836.1:c.1489C>G	ENSP00000501314.1:p.Leu497Val
ENST00000357730.6:c.1546C>G	ENSP00000350362.2:p.Leu516Val
ENST00000360584.6:c.1708C>G	ENSP00000353791.2:p.Leu570Val
ENST00000372306.7:c.1577C>G	ENSP00000361380.3:p.Pro526Arg
ENST00000372307.7:c.1294C>G	ENSP00000361381.3:p.Leu432Val
ENST00000372310.7:c.1489C>G	ENSP00000361384.3:p.Leu497Val
ENST00000475075.6:c.1156C>G	ENSP00000434460.1:p.Leu386Val
NM_001024845.2:c.1489C>G	NP_001020016.1:p.Leu497Val
NM_001261380.1:c.1501C>G	NP_001248309.1:p.Leu501Val
NM_006934.3:c.1546C>G	NP_008865.2:p.Leu516Val
NM_201649.3:c.1708C>G	NP_964012.2:p.Leu570Val
NR_048548.1:n.1749C>G
NR_048549.1:n.1472C>G
XM_011542017.1:c.1708C>G	XP_011540319.1:p.Leu570Val
NM_001328626.1:c.1156C>G	NP_001315555.1:p.Leu386Val
NM_001328627.1:c.1426C>G	NP_001315556.1:p.Leu476Val
NM_001328628.1:c.1294C>G	NP_001315557.1:p.Leu432Val
NM_001328629.1:c.1489C>G	NP_001315558.1:p.Leu497Val
NM_001328630.1:c.1156C>G	NP_001315559.1:p.Leu386Val
XM_011542017.2:c.1708C>G	XP_011540319.1:p.Leu570Val
XM_017002152.2:c.1408C>G	XP_016857641.1:p.Leu470Val
XM_017002153.2:c.1375C>G	XP_016857642.1:p.Leu459Val
XM_024449295.1:c.1294C>G	XP_024305063.1:p.Leu432Val
NM_001024845.3:c.1489C>G MANE Select	NP_001020016.1:p.Leu497Val
NM_001261380.2:c.1501C>G	NP_001248309.1:p.Leu501Val
NM_001328626.2:c.1156C>G	NP_001315555.1:p.Leu386Val
NM_001328630.2:c.1156C>G	NP_001315559.1:p.Leu386Val
NM_006934.4:c.1546C>G	NP_008865.2:p.Leu516Val
NM_201649.4:c.1708C>G	NP_964012.2:p.Leu570Val
NR_048548.2:n.1572C>G