Canonical Allele Identifier: CA415077245

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 451902
• ClinVar RCV Id: RCV000521906
• dbSNP Id: rs1557044165
• gnomAD v4: X-153690374-G-A
• MyVariant Identifiers: chrX:g.152955829G>A (hg19) ; chrX:g.153690374G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690374G>A , CM000685.2:g.153690374G>A	GRCh38
NC_000023.10:g.152955829G>A , CM000685.1:g.152955829G>A	GRCh37
NC_000023.9:g.152609023G>A	NCBI36
NG_012016.1:g.7078G>A
NG_012016.2:g.7078G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.263-1G>A MANE Select	ENSP00000253122.5:n.263-1G>A
ENST00000675713.1:n.16G>A
ENST00000253122.9:c.263-1G>A	ENSP00000253122.5:n.263-1G>A
ENST00000430077.6:c.-83-1G>A	ENSP00000403041.2:n.-83-1G>A
ENST00000476466.1:n.115-1G>A
NM_001142805.1:c.263-1G>A	NP_001136277.1:n.263-1G>A
NM_001142806.1:c.-83-1G>A	NP_001136278.1:n.-83-1G>A
NM_005629.3:c.263-1G>A	NP_005620.1:n.263-1G>A
NM_005629.4:c.263-1G>A MANE Select	NP_005620.1:n.263-1G>A
NM_001142805.2:c.263-1G>A	NP_001136277.1:n.263-1G>A