Canonical Allele Identifier: CA415086639

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1064861
• ClinVar RCV Id: RCV001375028
• dbSNP Id: rs2148363775
• MyVariant Identifiers: chrX:g.152959470C>A (hg19) ; chrX:g.153694015C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694015C>A , CM000685.2:g.153694015C>A	GRCh38
NC_000023.10:g.152959470C>A , CM000685.1:g.152959470C>A	GRCh37
NC_000023.9:g.152612664C>A	NCBI36
NG_012016.1:g.10719C>A
NG_012016.2:g.10719C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1252C>A MANE Select	ENSP00000253122.5:p.Gln418Lys
ENST00000253122.9:c.1252C>A	ENSP00000253122.5:p.Gln418Lys
ENST00000413787.1:c.258-189C>A	ENSP00000400463.1:n.258-189C>A
ENST00000430077.6:c.907C>A	ENSP00000403041.2:p.Gln303Lys
ENST00000442457.1:c.306C>A
ENST00000457723.1:c.236C>A	ENSP00000394742.1:p.Pro79Gln
ENST00000485324.1:n.1285C>A
NM_001142805.1:c.1222C>A	NP_001136277.1:p.Gln408Lys
NM_001142806.1:c.907C>A	NP_001136278.1:p.Gln303Lys
NM_005629.3:c.1252C>A	NP_005620.1:p.Gln418Lys
NM_005629.4:c.1252C>A MANE Select	NP_005620.1:p.Gln418Lys
NM_001142805.2:c.1222C>A	NP_001136277.1:p.Gln408Lys