Canonical Allele Identifier: CA415086872

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1006805
• ClinVar RCV Id: RCV001303905 ; RCV001776182 ; RCV001830202
• dbSNP Id: rs2091474639
• MyVariant Identifiers: chrX:g.152959663A>T (hg19) ; chrX:g.153694208A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694208A>T , CM000685.2:g.153694208A>T	GRCh38
NC_000023.10:g.152959663A>T , CM000685.1:g.152959663A>T	GRCh37
NC_000023.9:g.152612857A>T	NCBI36
NG_012016.1:g.10912A>T
NG_012016.2:g.10912A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1333A>T MANE Select	ENSP00000253122.5:p.Ile445Phe
ENST00000253122.9:c.1333A>T	ENSP00000253122.5:p.Ile445Phe
ENST00000413787.1:c.262A>T	ENSP00000400463.1:p.Ile88Phe
ENST00000430077.6:c.988A>T	ENSP00000403041.2:p.Ile330Phe
ENST00000442457.1:c.387A>T
ENST00000485324.1:n.1478A>T
NM_001142805.1:c.1303A>T	NP_001136277.1:p.Ile435Phe
NM_001142806.1:c.988A>T	NP_001136278.1:p.Ile330Phe
NM_005629.3:c.1333A>T	NP_005620.1:p.Ile445Phe
NM_005629.4:c.1333A>T MANE Select	NP_005620.1:p.Ile445Phe
NM_001142805.2:c.1303A>T	NP_001136277.1:p.Ile435Phe