Canonical Allele Identifier: CA415087075

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959709C>A (hg19) ; chrX:g.153694254C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694254C>A , CM000685.2:g.153694254C>A	GRCh38
NC_000023.10:g.152959709C>A , CM000685.1:g.152959709C>A	GRCh37
NC_000023.9:g.152612903C>A	NCBI36
NG_012016.1:g.10958C>A
NG_012016.2:g.10958C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1379C>A MANE Select	ENSP00000253122.5:p.Ser460Tyr
ENST00000253122.9:c.1379C>A	ENSP00000253122.5:p.Ser460Tyr
ENST00000413787.1:c.308C>A	ENSP00000400463.1:p.Ser103Tyr
ENST00000430077.6:c.1034C>A	ENSP00000403041.2:p.Ser345Tyr
ENST00000442457.1:c.433C>A
ENST00000485324.1:n.1524C>A
NM_001142805.1:c.1349C>A	NP_001136277.1:p.Ser450Tyr
NM_001142806.1:c.1034C>A	NP_001136278.1:p.Ser345Tyr
NM_005629.3:c.1379C>A	NP_005620.1:p.Ser460Tyr
NM_005629.4:c.1379C>A MANE Select	NP_005620.1:p.Ser460Tyr
NM_001142805.2:c.1349C>A	NP_001136277.1:p.Ser450Tyr