Canonical Allele Identifier: CA340068958

Gene: SLC6A9

Linked Data

• dbSNP Id: rs1379450309
• gnomAD v2: 1-44467271-A-C
• gnomAD v3: 1-44001599-A-C
• gnomAD v4: 1-44001599-A-C
• MyVariant Identifiers: chr1:g.44467271A>C (hg19) ; chr1:g.44001599A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44001599A>C , CM000663.2:g.44001599A>C	GRCh38
NC_000001.10:g.44467271A>C , CM000663.1:g.44467271A>C	GRCh37
NC_000001.9:g.44239858A>C	NCBI36
NG_050929.1:g.34894T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372310.8:c.991T>G MANE Select	ENSP00000361384.4:p.Cys331Gly
ENST00000673836.1:c.991T>G	ENSP00000501314.1:p.Cys331Gly
ENST00000357730.6:c.1048T>G	ENSP00000350362.2:p.Cys350Gly
ENST00000360584.6:c.1210T>G	ENSP00000353791.2:p.Cys404Gly
ENST00000372306.7:c.991T>G	ENSP00000361380.3:p.Cys331Gly
ENST00000372307.7:c.796T>G	ENSP00000361381.3:p.Cys266Gly
ENST00000372310.7:c.991T>G	ENSP00000361384.3:p.Cys331Gly
ENST00000475075.6:c.658T>G	ENSP00000434460.1:p.Cys220Gly
NM_001024845.2:c.991T>G	NP_001020016.1:p.Cys331Gly
NM_001261380.1:c.1003T>G	NP_001248309.1:p.Cys335Gly
NM_006934.3:c.1048T>G	NP_008865.2:p.Cys350Gly
NM_201649.3:c.1210T>G	NP_964012.2:p.Cys404Gly
NR_048548.1:n.1255T>G
NR_048549.1:n.974T>G
XM_011542017.1:c.1210T>G	XP_011540319.1:p.Cys404Gly
NM_001328626.1:c.658T>G	NP_001315555.1:p.Cys220Gly
NM_001328627.1:c.928T>G	NP_001315556.1:p.Cys310Gly
NM_001328628.1:c.796T>G	NP_001315557.1:p.Cys266Gly
NM_001328629.1:c.991T>G	NP_001315558.1:p.Cys331Gly
NM_001328630.1:c.658T>G	NP_001315559.1:p.Cys220Gly
XM_011542017.2:c.1210T>G	XP_011540319.1:p.Cys404Gly
XM_017002152.2:c.910T>G	XP_016857641.1:p.Cys304Gly
XM_017002153.2:c.877T>G	XP_016857642.1:p.Cys293Gly
XM_024449295.1:c.796T>G	XP_024305063.1:p.Cys266Gly
NM_001024845.3:c.991T>G MANE Select	NP_001020016.1:p.Cys331Gly
NM_001261380.2:c.1003T>G	NP_001248309.1:p.Cys335Gly
NM_001328626.2:c.658T>G	NP_001315555.1:p.Cys220Gly
NM_001328630.2:c.658T>G	NP_001315559.1:p.Cys220Gly
NM_006934.4:c.1048T>G	NP_008865.2:p.Cys350Gly
NM_201649.4:c.1210T>G	NP_964012.2:p.Cys404Gly
NR_048548.2:n.1078T>G