Canonical Allele Identifier: CA519190823

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959608C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694153C>A , CM000685.2:g.153694153C>A	GRCh38
NC_000023.10:g.152959608C>A , CM000685.1:g.152959608C>A	GRCh37
NC_000023.9:g.152612802C>A	NCBI36
NG_012016.1:g.10857C>A
NG_012016.2:g.10857C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1278C>A MANE Select	ENSP00000253122.5:p.Ile426=
ENST00000253122.9:c.1278C>A	ENSP00000253122.5:p.Ile426=
ENST00000413787.1:c.258-51C>A	ENSP00000400463.1:n.258-51C>A
ENST00000430077.6:c.933C>A	ENSP00000403041.2:p.Ile311=
ENST00000442457.1:c.332C>A
ENST00000457723.1:c.255C>A	ENSP00000394742.1:p.Ile85=
ENST00000485324.1:n.1423C>A
NM_001142805.1:c.1248C>A	NP_001136277.1:p.Ile416=
NM_001142806.1:c.933C>A	NP_001136278.1:p.Ile311=
NM_005629.3:c.1278C>A	NP_005620.1:p.Ile426=
NM_005629.4:c.1278C>A MANE Select	NP_005620.1:p.Ile426=
NM_001142805.2:c.1248C>A	NP_001136277.1:p.Ile416=