Canonical Allele Identifier: CA817607

Gene: SLC6A9

Linked Data

• ClinVar Variation Id: 1668307
• ClinVar RCV Id: RCV002195961
• dbSNP Id: rs778854185
• ExAC: 1:44467176 G / A
• gnomAD v2: 1-44467176-G-A
• gnomAD v3: 1-44001504-G-A
• gnomAD v4: 1-44001504-G-A
• COSMIC: COSM909962 ; COSM909963
• MyVariant Identifiers: chr1:g.44467176G>A (hg19) ; chr1:g.44001504G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44001504G>A , CM000663.2:g.44001504G>A	GRCh38
NC_000001.10:g.44467176G>A , CM000663.1:g.44467176G>A	GRCh37
NC_000001.9:g.44239763G>A	NCBI36
NG_050929.1:g.34989C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372310.8:c.1086C>T MANE Select	ENSP00000361384.4:p.His362=
ENST00000673836.1:c.1086C>T	ENSP00000501314.1:p.His362=
ENST00000357730.6:c.1143C>T	ENSP00000350362.2:p.His381=
ENST00000360584.6:c.1305C>T	ENSP00000353791.2:p.His435=
ENST00000372306.7:c.1086C>T	ENSP00000361380.3:p.His362=
ENST00000372307.7:c.891C>T	ENSP00000361381.3:p.His297=
ENST00000372310.7:c.1086C>T	ENSP00000361384.3:p.His362=
ENST00000475075.6:c.753C>T	ENSP00000434460.1:p.His251=
NM_001024845.2:c.1086C>T	NP_001020016.1:p.His362=
NM_001261380.1:c.1098C>T	NP_001248309.1:p.His366=
NM_006934.3:c.1143C>T	NP_008865.2:p.His381=
NM_201649.3:c.1305C>T	NP_964012.2:p.His435=
NR_048548.1:n.1350C>T
NR_048549.1:n.1069C>T
XM_011542017.1:c.1305C>T	XP_011540319.1:p.His435=
NM_001328626.1:c.753C>T	NP_001315555.1:p.His251=
NM_001328627.1:c.1023C>T	NP_001315556.1:p.His341=
NM_001328628.1:c.891C>T	NP_001315557.1:p.His297=
NM_001328629.1:c.1086C>T	NP_001315558.1:p.His362=
NM_001328630.1:c.753C>T	NP_001315559.1:p.His251=
XM_011542017.2:c.1305C>T	XP_011540319.1:p.His435=
XM_017002152.2:c.1005C>T	XP_016857641.1:p.His335=
XM_017002153.2:c.972C>T	XP_016857642.1:p.His324=
XM_024449295.1:c.891C>T	XP_024305063.1:p.His297=
NM_001024845.3:c.1086C>T MANE Select	NP_001020016.1:p.His362=
NM_001261380.2:c.1098C>T	NP_001248309.1:p.His366=
NM_001328626.2:c.753C>T	NP_001315555.1:p.His251=
NM_001328630.2:c.753C>T	NP_001315559.1:p.His251=
NM_006934.4:c.1143C>T	NP_008865.2:p.His381=
NM_201649.4:c.1305C>T	NP_964012.2:p.His435=
NR_048548.2:n.1173C>T