Canonical Allele Identifier: CA817603

Gene: SLC6A9

Linked Data

• dbSNP Id: rs756376809
• ExAC: 1:44467163 C / T
• gnomAD v2: 1-44467163-C-T
• MyVariant Identifiers: chr1:g.44467163C>T (hg19) ; chr1:g.44001491C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44001491C>T , CM000663.2:g.44001491C>T	GRCh38
NC_000001.10:g.44467163C>T , CM000663.1:g.44467163C>T	GRCh37
NC_000001.9:g.44239750C>T	NCBI36
NG_050929.1:g.35002G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372310.8:c.1099G>A MANE Select	ENSP00000361384.4:p.Ala367Thr
ENST00000673836.1:c.1099G>A	ENSP00000501314.1:p.Ala367Thr
ENST00000357730.6:c.1156G>A	ENSP00000350362.2:p.Ala386Thr
ENST00000360584.6:c.1318G>A	ENSP00000353791.2:p.Ala440Thr
ENST00000372306.7:c.1099G>A	ENSP00000361380.3:p.Ala367Thr
ENST00000372307.7:c.904G>A	ENSP00000361381.3:p.Ala302Thr
ENST00000372310.7:c.1099G>A	ENSP00000361384.3:p.Ala367Thr
ENST00000475075.6:c.766G>A	ENSP00000434460.1:p.Ala256Thr
NM_001024845.2:c.1099G>A	NP_001020016.1:p.Ala367Thr
NM_001261380.1:c.1111G>A	NP_001248309.1:p.Ala371Thr
NM_006934.3:c.1156G>A	NP_008865.2:p.Ala386Thr
NM_201649.3:c.1318G>A	NP_964012.2:p.Ala440Thr
NR_048548.1:n.1363G>A
NR_048549.1:n.1082G>A
XM_011542017.1:c.1318G>A	XP_011540319.1:p.Ala440Thr
NM_001328626.1:c.766G>A	NP_001315555.1:p.Ala256Thr
NM_001328627.1:c.1036G>A	NP_001315556.1:p.Ala346Thr
NM_001328628.1:c.904G>A	NP_001315557.1:p.Ala302Thr
NM_001328629.1:c.1099G>A	NP_001315558.1:p.Ala367Thr
NM_001328630.1:c.766G>A	NP_001315559.1:p.Ala256Thr
XM_011542017.2:c.1318G>A	XP_011540319.1:p.Ala440Thr
XM_017002152.2:c.1018G>A	XP_016857641.1:p.Ala340Thr
XM_017002153.2:c.985G>A	XP_016857642.1:p.Ala329Thr
XM_024449295.1:c.904G>A	XP_024305063.1:p.Ala302Thr
NM_001024845.3:c.1099G>A MANE Select	NP_001020016.1:p.Ala367Thr
NM_001261380.2:c.1111G>A	NP_001248309.1:p.Ala371Thr
NM_001328626.2:c.766G>A	NP_001315555.1:p.Ala256Thr
NM_001328630.2:c.766G>A	NP_001315559.1:p.Ala256Thr
NM_006934.4:c.1156G>A	NP_008865.2:p.Ala386Thr
NM_201649.4:c.1318G>A	NP_964012.2:p.Ala440Thr
NR_048548.2:n.1186G>A