Canonical Allele Identifier: CA2697544805

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 2755307
• ClinVar RCV Id: RCV003511835

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694028G>A , CM000685.2:g.153694028G>A	GRCh38
NC_000023.10:g.152959483G>A , CM000685.1:g.152959483G>A	GRCh37
NC_000023.9:g.152612677G>A	NCBI36
NG_012016.1:g.10732G>A
NG_012016.2:g.10732G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1254+11G>A MANE Select	ENSP00000253122.5:n.1254+11G>A
ENST00000253122.9:c.1254+11G>A	ENSP00000253122.5:n.1254+11G>A
ENST00000413787.1:c.258-176G>A	ENSP00000400463.1:n.258-176G>A
ENST00000430077.6:c.909+11G>A	ENSP00000403041.2:n.909+11G>A
ENST00000442457.1:c.308+11G>A
ENST00000457723.1:c.238+11G>A	ENSP00000394742.1:n.238+11G>A
ENST00000485324.1:n.1298G>A
NM_001142805.1:c.1224+11G>A	NP_001136277.1:n.1224+11G>A
NM_001142806.1:c.909+11G>A	NP_001136278.1:n.909+11G>A
NM_005629.3:c.1254+11G>A	NP_005620.1:n.1254+11G>A
NM_005629.4:c.1254+11G>A MANE Select	NP_005620.1:n.1254+11G>A
NM_001142805.2:c.1224+11G>A	NP_001136277.1:n.1224+11G>A