Canonical Allele Identifier: CA415086781

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1696872
• ClinVar RCV Id: RCV002267218 ; RCV003624473
• dbSNP Id: rs1557045400
• gnomAD v2: X-152959640-A-G
• gnomAD v4: X-153694185-A-G
• MyVariant Identifiers: chrX:g.152959640A>G (hg19) ; chrX:g.153694185A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694185A>G , CM000685.2:g.153694185A>G	GRCh38
NC_000023.10:g.152959640A>G , CM000685.1:g.152959640A>G	GRCh37
NC_000023.9:g.152612834A>G	NCBI36
NG_012016.1:g.10889A>G
NG_012016.2:g.10889A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1310A>G MANE Select	ENSP00000253122.5:p.Tyr437Cys
ENST00000253122.9:c.1310A>G	ENSP00000253122.5:p.Tyr437Cys
ENST00000413787.1:c.258-19A>G	ENSP00000400463.1:n.258-19A>G
ENST00000430077.6:c.965A>G	ENSP00000403041.2:p.Tyr322Cys
ENST00000442457.1:c.364A>G
ENST00000485324.1:n.1455A>G
NM_001142805.1:c.1280A>G	NP_001136277.1:p.Tyr427Cys
NM_001142806.1:c.965A>G	NP_001136278.1:p.Tyr322Cys
NM_005629.3:c.1310A>G	NP_005620.1:p.Tyr437Cys
NM_005629.4:c.1310A>G MANE Select	NP_005620.1:p.Tyr437Cys
NM_001142805.2:c.1280A>G	NP_001136277.1:p.Tyr427Cys