Canonical Allele Identifier: CA10549444

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 696719
• ClinVar RCV Id: RCV000863219 ; RCV001830866
• dbSNP Id: rs782416756
• ExAC: X:152959388 G / A
• gnomAD v2: X-152959388-G-A
• gnomAD v3: X-153693933-G-A
• gnomAD v4: X-153693933-G-A
• MyVariant Identifiers: chrX:g.152959388G>A (hg19) ; chrX:g.153693933G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693933G>A , CM000685.2:g.153693933G>A	GRCh38
NC_000023.10:g.152959388G>A , CM000685.1:g.152959388G>A	GRCh37
NC_000023.9:g.152612582G>A	NCBI36
NG_012016.1:g.10637G>A
NG_012016.2:g.10637G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1170G>A MANE Select	ENSP00000253122.5:p.Pro390=
ENST00000253122.9:c.1170G>A	ENSP00000253122.5:p.Pro390=
ENST00000413787.1:c.258-271G>A	ENSP00000400463.1:n.258-271G>A
ENST00000430077.6:c.825G>A	ENSP00000403041.2:p.Pro275=
ENST00000442457.1:c.224G>A
ENST00000457723.1:c.154G>A	ENSP00000394742.1:p.Ala52Thr
ENST00000467402.1:n.269G>A
ENST00000485324.1:n.1203G>A
NM_001142805.1:c.1140G>A	NP_001136277.1:p.Pro380=
NM_001142806.1:c.825G>A	NP_001136278.1:p.Pro275=
NM_005629.3:c.1170G>A	NP_005620.1:p.Pro390=
NM_005629.4:c.1170G>A MANE Select	NP_005620.1:p.Pro390=
NM_001142805.2:c.1140G>A	NP_001136277.1:p.Pro380=