Canonical Allele Identifier: CA645153979

Gene: SLC6A8

Linked Data

• dbSNP Id: rs1557045365
• gnomAD v2: X-152959542-T-G
• gnomAD v3: X-153694087-T-G
• gnomAD v4: X-153694087-T-G
• MyVariant Identifiers: chrX:g.152959542T>G (hg19) ; chrX:g.153694087T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694087T>G , CM000685.2:g.153694087T>G	GRCh38
NC_000023.10:g.152959542T>G , CM000685.1:g.152959542T>G	GRCh37
NC_000023.9:g.152612736T>G	NCBI36
NG_012016.1:g.10791T>G
NG_012016.2:g.10791T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1255-43T>G MANE Select	ENSP00000253122.5:n.1255-43T>G
ENST00000253122.9:c.1255-43T>G	ENSP00000253122.5:n.1255-43T>G
ENST00000413787.1:c.258-117T>G	ENSP00000400463.1:n.258-117T>G
ENST00000430077.6:c.910-43T>G	ENSP00000403041.2:n.910-43T>G
ENST00000442457.1:c.309-43T>G
ENST00000457723.1:c.239-50T>G	ENSP00000394742.1:n.239-50T>G
ENST00000485324.1:n.1357T>G
NM_001142805.1:c.1225-43T>G	NP_001136277.1:n.1225-43T>G
NM_001142806.1:c.910-43T>G	NP_001136278.1:n.910-43T>G
NM_005629.3:c.1255-43T>G	NP_005620.1:n.1255-43T>G
NM_005629.4:c.1255-43T>G MANE Select	NP_005620.1:n.1255-43T>G
NM_001142805.2:c.1225-43T>G	NP_001136277.1:n.1225-43T>G