Canonical Allele Identifier: CA415086584

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 976446
• ClinVar RCV Id: RCV001253760
• dbSNP Id: rs2091472802
• MyVariant Identifiers: chrX:g.152959450T>C (hg19) ; chrX:g.153693995T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693995T>C , CM000685.2:g.153693995T>C	GRCh38
NC_000023.10:g.152959450T>C , CM000685.1:g.152959450T>C	GRCh37
NC_000023.9:g.152612644T>C	NCBI36
NG_012016.1:g.10699T>C
NG_012016.2:g.10699T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1232T>C MANE Select	ENSP00000253122.5:p.Leu411Ser
ENST00000253122.9:c.1232T>C	ENSP00000253122.5:p.Leu411Ser
ENST00000413787.1:c.258-209T>C	ENSP00000400463.1:n.258-209T>C
ENST00000430077.6:c.887T>C	ENSP00000403041.2:p.Leu296Ser
ENST00000442457.1:c.286T>C
ENST00000457723.1:c.216T>C	ENSP00000394742.1:p.Val72=
ENST00000485324.1:n.1265T>C
NM_001142805.1:c.1202T>C	NP_001136277.1:p.Leu401Ser
NM_001142806.1:c.887T>C	NP_001136278.1:p.Leu296Ser
NM_005629.3:c.1232T>C	NP_005620.1:p.Leu411Ser
NM_005629.4:c.1232T>C MANE Select	NP_005620.1:p.Leu411Ser
NM_001142805.2:c.1202T>C	NP_001136277.1:p.Leu401Ser