Canonical Allele Identifier: CA415086249

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 2980643
• ClinVar RCV Id: RCV003839801
• gnomAD v4: X-153693936-G-A
• MyVariant Identifiers: chrX:g.152959391G>A (hg19) ; chrX:g.153693936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693936G>A , CM000685.2:g.153693936G>A	GRCh38
NC_000023.10:g.152959391G>A , CM000685.1:g.152959391G>A	GRCh37
NC_000023.9:g.152612585G>A	NCBI36
NG_012016.1:g.10640G>A
NG_012016.2:g.10640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1173G>A MANE Select	ENSP00000253122.5:p.Arg391=
ENST00000253122.9:c.1173G>A	ENSP00000253122.5:p.Arg391=
ENST00000413787.1:c.258-268G>A	ENSP00000400463.1:n.258-268G>A
ENST00000430077.6:c.828G>A	ENSP00000403041.2:p.Arg276=
ENST00000442457.1:c.227G>A
ENST00000457723.1:c.157G>A	ENSP00000394742.1:p.Gly53Ser
ENST00000467402.1:n.272G>A
ENST00000485324.1:n.1206G>A
NM_001142805.1:c.1143G>A	NP_001136277.1:p.Arg381=
NM_001142806.1:c.828G>A	NP_001136278.1:p.Arg276=
NM_005629.3:c.1173G>A	NP_005620.1:p.Arg391=
NM_005629.4:c.1173G>A MANE Select	NP_005620.1:p.Arg391=
NM_001142805.2:c.1143G>A	NP_001136277.1:p.Arg381=