Canonical Allele Identifier: CA340068956

Gene: SLC6A9

Linked Data

• dbSNP Id: rs1477230847
• gnomAD v3: 1-44001598-C-G
• gnomAD v4: 1-44001598-C-G
• MyVariant Identifiers: chr1:g.44467270C>G (hg19) ; chr1:g.44001598C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44001598C>G , CM000663.2:g.44001598C>G	GRCh38
NC_000001.10:g.44467270C>G , CM000663.1:g.44467270C>G	GRCh37
NC_000001.9:g.44239857C>G	NCBI36
NG_050929.1:g.34895G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372310.8:c.992G>C MANE Select	ENSP00000361384.4:p.Cys331Ser
ENST00000673836.1:c.992G>C	ENSP00000501314.1:p.Cys331Ser
ENST00000357730.6:c.1049G>C	ENSP00000350362.2:p.Cys350Ser
ENST00000360584.6:c.1211G>C	ENSP00000353791.2:p.Cys404Ser
ENST00000372306.7:c.992G>C	ENSP00000361380.3:p.Cys331Ser
ENST00000372307.7:c.797G>C	ENSP00000361381.3:p.Cys266Ser
ENST00000372310.7:c.992G>C	ENSP00000361384.3:p.Cys331Ser
ENST00000475075.6:c.659G>C	ENSP00000434460.1:p.Cys220Ser
NM_001024845.2:c.992G>C	NP_001020016.1:p.Cys331Ser
NM_001261380.1:c.1004G>C	NP_001248309.1:p.Cys335Ser
NM_006934.3:c.1049G>C	NP_008865.2:p.Cys350Ser
NM_201649.3:c.1211G>C	NP_964012.2:p.Cys404Ser
NR_048548.1:n.1256G>C
NR_048549.1:n.975G>C
XM_011542017.1:c.1211G>C	XP_011540319.1:p.Cys404Ser
NM_001328626.1:c.659G>C	NP_001315555.1:p.Cys220Ser
NM_001328627.1:c.929G>C	NP_001315556.1:p.Cys310Ser
NM_001328628.1:c.797G>C	NP_001315557.1:p.Cys266Ser
NM_001328629.1:c.992G>C	NP_001315558.1:p.Cys331Ser
NM_001328630.1:c.659G>C	NP_001315559.1:p.Cys220Ser
XM_011542017.2:c.1211G>C	XP_011540319.1:p.Cys404Ser
XM_017002152.2:c.911G>C	XP_016857641.1:p.Cys304Ser
XM_017002153.2:c.878G>C	XP_016857642.1:p.Cys293Ser
XM_024449295.1:c.797G>C	XP_024305063.1:p.Cys266Ser
NM_001024845.3:c.992G>C MANE Select	NP_001020016.1:p.Cys331Ser
NM_001261380.2:c.1004G>C	NP_001248309.1:p.Cys335Ser
NM_001328626.2:c.659G>C	NP_001315555.1:p.Cys220Ser
NM_001328630.2:c.659G>C	NP_001315559.1:p.Cys220Ser
NM_006934.4:c.1049G>C	NP_008865.2:p.Cys350Ser
NM_201649.4:c.1211G>C	NP_964012.2:p.Cys404Ser
NR_048548.2:n.1079G>C