Canonical Allele Identifier: CA415086405

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1437895
• ClinVar RCV Id: RCV001957708
• dbSNP Id: rs1557045289
• gnomAD v2: X-152959415-C-T
• gnomAD v4: X-153693960-C-T
• MyVariant Identifiers: chrX:g.152959415C>T (hg19) ; chrX:g.153693960C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693960C>T , CM000685.2:g.153693960C>T	GRCh38
NC_000023.10:g.152959415C>T , CM000685.1:g.152959415C>T	GRCh37
NC_000023.9:g.152612609C>T	NCBI36
NG_012016.1:g.10664C>T
NG_012016.2:g.10664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1197C>T MANE Select	ENSP00000253122.5:p.Ala399=
ENST00000253122.9:c.1197C>T	ENSP00000253122.5:p.Ala399=
ENST00000413787.1:c.258-244C>T	ENSP00000400463.1:n.258-244C>T
ENST00000430077.6:c.852C>T	ENSP00000403041.2:p.Ala284=
ENST00000442457.1:c.251C>T
ENST00000457723.1:c.181C>T	ENSP00000394742.1:p.Pro61Ser
ENST00000467402.1:n.296C>T
ENST00000485324.1:n.1230C>T
NM_001142805.1:c.1167C>T	NP_001136277.1:p.Ala389=
NM_001142806.1:c.852C>T	NP_001136278.1:p.Ala284=
NM_005629.3:c.1197C>T	NP_005620.1:p.Ala399=
NM_005629.4:c.1197C>T MANE Select	NP_005620.1:p.Ala399=
NM_001142805.2:c.1167C>T	NP_001136277.1:p.Ala389=