Canonical Allele Identifier: CA415086241

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 465141
• ClinVar RCV Id: RCV000551024 ; RCV000623839 ; RCV001572173
• dbSNP Id: rs1557045267
• gnomAD v4: X-153693934-C-T
• MyVariant Identifiers: chrX:g.152959389C>T (hg19) ; chrX:g.153693934C>T (hg38)
• ERepo: CA415086241/MONDO:0010305/027
• PubMed: PMID:10893433 ; PMID:15154114 ; PMID:15234334 ; PMID:16738945 ; PMID:20528887 ; PMID:20846889 ; PMID:23644449 ; PMID:24137762 ; PMID:24190795 ; PMID:27081545 ; PMID:28065824

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693934C>T , CM000685.2:g.153693934C>T	GRCh38
NC_000023.10:g.152959389C>T , CM000685.1:g.152959389C>T	GRCh37
NC_000023.9:g.152612583C>T	NCBI36
NG_012016.1:g.10638C>T
NG_012016.2:g.10638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1171C>T MANE Select	ENSP00000253122.5:p.Arg391Trp
ENST00000253122.9:c.1171C>T	ENSP00000253122.5:p.Arg391Trp
ENST00000413787.1:c.258-270C>T	ENSP00000400463.1:n.258-270C>T
ENST00000430077.6:c.826C>T	ENSP00000403041.2:p.Arg276Trp
ENST00000442457.1:c.225C>T
ENST00000457723.1:c.155C>T	ENSP00000394742.1:p.Ala52Val
ENST00000467402.1:n.270C>T
ENST00000485324.1:n.1204C>T
NM_001142805.1:c.1141C>T	NP_001136277.1:p.Arg381Trp
NM_001142806.1:c.826C>T	NP_001136278.1:p.Arg276Trp
NM_005629.3:c.1171C>T	NP_005620.1:p.Arg391Trp
NM_005629.4:c.1171C>T MANE Select	NP_005620.1:p.Arg391Trp
NM_001142805.2:c.1141C>T	NP_001136277.1:p.Arg381Trp