Canonical Allele Identifier: CA340067479

Gene: SLC6A9

Linked Data

• gnomAD v4: 1-44000771-A-G
• MyVariant Identifiers: chr1:g.44466443A>G (hg19) ; chr1:g.44000771A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44000771A>G , CM000663.2:g.44000771A>G	GRCh38
NC_000001.10:g.44466443A>G , CM000663.1:g.44466443A>G	GRCh37
NC_000001.9:g.44239030A>G	NCBI36
NG_050929.1:g.35722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372310.8:c.1532T>C MANE Select	ENSP00000361384.4:p.Ile511Thr
ENST00000673836.1:c.1532T>C	ENSP00000501314.1:p.Ile511Thr
ENST00000357730.6:c.1589T>C	ENSP00000350362.2:p.Ile530Thr
ENST00000360584.6:c.1751T>C	ENSP00000353791.2:p.Ile584Thr
ENST00000372306.7:c.1620T>C	ENSP00000361380.3:p.His540=
ENST00000372307.7:c.1337T>C	ENSP00000361381.3:p.Ile446Thr
ENST00000372310.7:c.1532T>C	ENSP00000361384.3:p.Ile511Thr
ENST00000475075.6:c.1199T>C	ENSP00000434460.1:p.Ile400Thr
NM_001024845.2:c.1532T>C	NP_001020016.1:p.Ile511Thr
NM_001261380.1:c.1544T>C	NP_001248309.1:p.Ile515Thr
NM_006934.3:c.1589T>C	NP_008865.2:p.Ile530Thr
NM_201649.3:c.1751T>C	NP_964012.2:p.Ile584Thr
NR_048548.1:n.1792T>C
NR_048549.1:n.1515T>C
XM_011542017.1:c.1751T>C	XP_011540319.1:p.Ile584Thr
NM_001328626.1:c.1199T>C	NP_001315555.1:p.Ile400Thr
NM_001328627.1:c.1469T>C	NP_001315556.1:p.Ile490Thr
NM_001328628.1:c.1337T>C	NP_001315557.1:p.Ile446Thr
NM_001328629.1:c.1532T>C	NP_001315558.1:p.Ile511Thr
NM_001328630.1:c.1199T>C	NP_001315559.1:p.Ile400Thr
XM_011542017.2:c.1751T>C	XP_011540319.1:p.Ile584Thr
XM_017002152.2:c.1451T>C	XP_016857641.1:p.Ile484Thr
XM_017002153.2:c.1418T>C	XP_016857642.1:p.Ile473Thr
XM_024449295.1:c.1337T>C	XP_024305063.1:p.Ile446Thr
NM_001024845.3:c.1532T>C MANE Select	NP_001020016.1:p.Ile511Thr
NM_001261380.2:c.1544T>C	NP_001248309.1:p.Ile515Thr
NM_001328626.2:c.1199T>C	NP_001315555.1:p.Ile400Thr
NM_001328630.2:c.1199T>C	NP_001315559.1:p.Ile400Thr
NM_006934.4:c.1589T>C	NP_008865.2:p.Ile530Thr
NM_201649.4:c.1751T>C	NP_964012.2:p.Ile584Thr
NR_048548.2:n.1615T>C