Canonical Allele Identifier: CA519344873

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 2807368
• ClinVar RCV Id: RCV003625129
• dbSNP Id: rs1569539424
• MyVariant Identifiers: chrX:g.152959635C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694180C>T , CM000685.2:g.153694180C>T	GRCh38
NC_000023.10:g.152959635C>T , CM000685.1:g.152959635C>T	GRCh37
NC_000023.9:g.152612829C>T	NCBI36
NG_012016.1:g.10884C>T
NG_012016.2:g.10884C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1305C>T MANE Select	ENSP00000253122.5:p.Ala435=
ENST00000253122.9:c.1305C>T	ENSP00000253122.5:p.Ala435=
ENST00000413787.1:c.258-24C>T	ENSP00000400463.1:n.258-24C>T
ENST00000430077.6:c.960C>T	ENSP00000403041.2:p.Ala320=
ENST00000442457.1:c.359C>T
ENST00000485324.1:n.1450C>T
NM_001142805.1:c.1275C>T	NP_001136277.1:p.Ala425=
NM_001142806.1:c.960C>T	NP_001136278.1:p.Ala320=
NM_005629.3:c.1305C>T	NP_005620.1:p.Ala435=
NM_005629.4:c.1305C>T MANE Select	NP_005620.1:p.Ala435=
NM_001142805.2:c.1275C>T	NP_001136277.1:p.Ala425=