Canonical Allele Identifier: CA645153954

Gene: SLC6A8

Linked Data

• dbSNP Id: rs1271006242
• gnomAD v2: X-152959505-A-G
• gnomAD v4: X-153694050-A-G
• MyVariant Identifiers: chrX:g.152959505_152959506delinsGG (hg19) ; chrX:g.153694050A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694050A>G , CM000685.2:g.153694050A>G	GRCh38
NC_000023.10:g.152959505A>G , CM000685.1:g.152959505A>G	GRCh37
NC_000023.9:g.152612699A>G	NCBI36
NG_012016.1:g.10754A>G
NG_012016.2:g.10754A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000253122.10:c.1254+33A>G MANE Select	ENSP00000253122.5:n.1254+33A>G
ENST00000253122.9:c.1254+33A>G	ENSP00000253122.5:n.1254+33A>G
ENST00000413787.1:c.258-154A>G	ENSP00000400463.1:n.258-154A>G
ENST00000430077.6:c.909+33A>G	ENSP00000403041.2:n.909+33A>G
ENST00000442457.1:c.308+33A>G
ENST00000457723.1:c.238+33A>G	ENSP00000394742.1:n.238+33A>G
ENST00000485324.1:n.1320A>G
NM_001142805.1:c.1224+33A>G	NP_001136277.1:n.1224+33A>G
NM_001142806.1:c.909+33A>G	NP_001136278.1:n.909+33A>G
NM_005629.3:c.1254+33A>G	NP_005620.1:n.1254+33A>G
NM_005629.4:c.1254+33A>G MANE Select	NP_005620.1:n.1254+33A>G
NM_001142805.2:c.1224+33A>G	NP_001136277.1:n.1224+33A>G