Canonical Allele Identifier: CA817606

Gene: SLC6A9

Linked Data

• dbSNP Id: rs770924272
• ExAC: 1:44467175 C / T
• gnomAD v2: 1-44467175-C-T
• gnomAD v4: 1-44001503-C-T
• MyVariant Identifiers: chr1:g.44467175C>T (hg19) ; chr1:g.44001503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44001503C>T , CM000663.2:g.44001503C>T	GRCh38
NC_000001.10:g.44467175C>T , CM000663.1:g.44467175C>T	GRCh37
NC_000001.9:g.44239762C>T	NCBI36
NG_050929.1:g.34990G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372310.8:c.1087G>A MANE Select	ENSP00000361384.4:p.Gly363Ser
ENST00000673836.1:c.1087G>A	ENSP00000501314.1:p.Gly363Ser
ENST00000357730.6:c.1144G>A	ENSP00000350362.2:p.Gly382Ser
ENST00000360584.6:c.1306G>A	ENSP00000353791.2:p.Gly436Ser
ENST00000372306.7:c.1087G>A	ENSP00000361380.3:p.Gly363Ser
ENST00000372307.7:c.892G>A	ENSP00000361381.3:p.Gly298Ser
ENST00000372310.7:c.1087G>A	ENSP00000361384.3:p.Gly363Ser
ENST00000475075.6:c.754G>A	ENSP00000434460.1:p.Gly252Ser
NM_001024845.2:c.1087G>A	NP_001020016.1:p.Gly363Ser
NM_001261380.1:c.1099G>A	NP_001248309.1:p.Gly367Ser
NM_006934.3:c.1144G>A	NP_008865.2:p.Gly382Ser
NM_201649.3:c.1306G>A	NP_964012.2:p.Gly436Ser
NR_048548.1:n.1351G>A
NR_048549.1:n.1070G>A
XM_011542017.1:c.1306G>A	XP_011540319.1:p.Gly436Ser
NM_001328626.1:c.754G>A	NP_001315555.1:p.Gly252Ser
NM_001328627.1:c.1024G>A	NP_001315556.1:p.Gly342Ser
NM_001328628.1:c.892G>A	NP_001315557.1:p.Gly298Ser
NM_001328629.1:c.1087G>A	NP_001315558.1:p.Gly363Ser
NM_001328630.1:c.754G>A	NP_001315559.1:p.Gly252Ser
XM_011542017.2:c.1306G>A	XP_011540319.1:p.Gly436Ser
XM_017002152.2:c.1006G>A	XP_016857641.1:p.Gly336Ser
XM_017002153.2:c.973G>A	XP_016857642.1:p.Gly325Ser
XM_024449295.1:c.892G>A	XP_024305063.1:p.Gly298Ser
NM_001024845.3:c.1087G>A MANE Select	NP_001020016.1:p.Gly363Ser
NM_001261380.2:c.1099G>A	NP_001248309.1:p.Gly367Ser
NM_001328626.2:c.754G>A	NP_001315555.1:p.Gly252Ser
NM_001328630.2:c.754G>A	NP_001315559.1:p.Gly252Ser
NM_006934.4:c.1144G>A	NP_008865.2:p.Gly382Ser
NM_201649.4:c.1306G>A	NP_964012.2:p.Gly436Ser
NR_048548.2:n.1174G>A