Canonical Allele Identifier: CA415086032

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959358A>G (hg19) ; chrX:g.153693903A>G (hg38)
• ERepo: CA415086032/MONDO:0010305/027

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693903A>G , CM000685.2:g.153693903A>G	GRCh38
NC_000023.10:g.152959358A>G , CM000685.1:g.152959358A>G	GRCh37
NC_000023.9:g.152612552A>G	NCBI36
NG_012016.1:g.10607A>G
NG_012016.2:g.10607A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1142-2A>G MANE Select	ENSP00000253122.5:n.1142-2A>G
ENST00000253122.9:c.1142-2A>G	ENSP00000253122.5:n.1142-2A>G
ENST00000413787.1:c.258-301A>G	ENSP00000400463.1:n.258-301A>G
ENST00000430077.6:c.797-2A>G	ENSP00000403041.2:n.797-2A>G
ENST00000442457.1:c.196-2A>G
ENST00000457723.1:c.126-2A>G	ENSP00000394742.1:n.126-2A>G
ENST00000467402.1:n.241-2A>G
ENST00000485324.1:n.1175-2A>G
NM_001142805.1:c.1112-2A>G	NP_001136277.1:n.1112-2A>G
NM_001142806.1:c.797-2A>G	NP_001136278.1:n.797-2A>G
NM_005629.3:c.1142-2A>G	NP_005620.1:n.1142-2A>G
NM_005629.4:c.1142-2A>G MANE Select	NP_005620.1:n.1142-2A>G
NM_001142805.2:c.1112-2A>G	NP_001136277.1:n.1112-2A>G