Canonical Allele Identifier: CA415086858

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1308664
• ClinVar RCV Id: RCV001754572
• dbSNP Id: rs2091474617
• MyVariant Identifiers: chrX:g.152959660G>T (hg19) ; chrX:g.153694205G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694205G>T , CM000685.2:g.153694205G>T	GRCh38
NC_000023.10:g.152959660G>T , CM000685.1:g.152959660G>T	GRCh37
NC_000023.9:g.152612854G>T	NCBI36
NG_012016.1:g.10909G>T
NG_012016.2:g.10909G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1330G>T MANE Select	ENSP00000253122.5:p.Glu444Ter
ENST00000253122.9:c.1330G>T	ENSP00000253122.5:p.Glu444Ter
ENST00000413787.1:c.259G>T	ENSP00000400463.1:p.Glu87Ter
ENST00000430077.6:c.985G>T	ENSP00000403041.2:p.Glu329Ter
ENST00000442457.1:c.384G>T
ENST00000485324.1:n.1475G>T
NM_001142805.1:c.1300G>T	NP_001136277.1:p.Glu434Ter
NM_001142806.1:c.985G>T	NP_001136278.1:p.Glu329Ter
NM_005629.3:c.1330G>T	NP_005620.1:p.Glu444Ter
NM_005629.4:c.1330G>T MANE Select	NP_005620.1:p.Glu444Ter
NM_001142805.2:c.1300G>T	NP_001136277.1:p.Glu434Ter