Canonical Allele Identifier: CA340067473

Gene: SLC6A9

Linked Data

• MyVariant Identifiers: chr1:g.44466441A>T (hg19) ; chr1:g.44000769A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44000769A>T , CM000663.2:g.44000769A>T	GRCh38
NC_000001.10:g.44466441A>T , CM000663.1:g.44466441A>T	GRCh37
NC_000001.9:g.44239028A>T	NCBI36
NG_050929.1:g.35724T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372310.8:c.1534T>A MANE Select	ENSP00000361384.4:p.Phe512Ile
ENST00000673836.1:c.1534T>A	ENSP00000501314.1:p.Phe512Ile
ENST00000357730.6:c.1591T>A	ENSP00000350362.2:p.Phe531Ile
ENST00000360584.6:c.1753T>A	ENSP00000353791.2:p.Phe585Ile
ENST00000372306.7:c.1622T>A	ENSP00000361380.3:p.Leu541His
ENST00000372307.7:c.1339T>A	ENSP00000361381.3:p.Phe447Ile
ENST00000372310.7:c.1534T>A	ENSP00000361384.3:p.Phe512Ile
ENST00000475075.6:c.1201T>A	ENSP00000434460.1:p.Phe401Ile
NM_001024845.2:c.1534T>A	NP_001020016.1:p.Phe512Ile
NM_001261380.1:c.1546T>A	NP_001248309.1:p.Phe516Ile
NM_006934.3:c.1591T>A	NP_008865.2:p.Phe531Ile
NM_201649.3:c.1753T>A	NP_964012.2:p.Phe585Ile
NR_048548.1:n.1794T>A
NR_048549.1:n.1517T>A
XM_011542017.1:c.1753T>A	XP_011540319.1:p.Phe585Ile
NM_001328626.1:c.1201T>A	NP_001315555.1:p.Phe401Ile
NM_001328627.1:c.1471T>A	NP_001315556.1:p.Phe491Ile
NM_001328628.1:c.1339T>A	NP_001315557.1:p.Phe447Ile
NM_001328629.1:c.1534T>A	NP_001315558.1:p.Phe512Ile
NM_001328630.1:c.1201T>A	NP_001315559.1:p.Phe401Ile
XM_011542017.2:c.1753T>A	XP_011540319.1:p.Phe585Ile
XM_017002152.2:c.1453T>A	XP_016857641.1:p.Phe485Ile
XM_017002153.2:c.1420T>A	XP_016857642.1:p.Phe474Ile
XM_024449295.1:c.1339T>A	XP_024305063.1:p.Phe447Ile
NM_001024845.3:c.1534T>A MANE Select	NP_001020016.1:p.Phe512Ile
NM_001261380.2:c.1546T>A	NP_001248309.1:p.Phe516Ile
NM_001328626.2:c.1201T>A	NP_001315555.1:p.Phe401Ile
NM_001328630.2:c.1201T>A	NP_001315559.1:p.Phe401Ile
NM_006934.4:c.1591T>A	NP_008865.2:p.Phe531Ile
NM_201649.4:c.1753T>A	NP_964012.2:p.Phe585Ile
NR_048548.2:n.1617T>A