Canonical Allele Identifier: CA519344920

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1159681
• ClinVar RCV Id: RCV001503493
• dbSNP Id: rs781971678
• MyVariant Identifiers: chrX:g.152959674C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694219C>T , CM000685.2:g.153694219C>T	GRCh38
NC_000023.10:g.152959674C>T , CM000685.1:g.152959674C>T	GRCh37
NC_000023.9:g.152612868C>T	NCBI36
NG_012016.1:g.10923C>T
NG_012016.2:g.10923C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1344C>T MANE Select	ENSP00000253122.5:p.Ala448=
ENST00000253122.9:c.1344C>T	ENSP00000253122.5:p.Ala448=
ENST00000413787.1:c.273C>T	ENSP00000400463.1:p.Ala91=
ENST00000430077.6:c.999C>T	ENSP00000403041.2:p.Ala333=
ENST00000442457.1:c.398C>T
ENST00000485324.1:n.1489C>T
NM_001142805.1:c.1314C>T	NP_001136277.1:p.Ala438=
NM_001142806.1:c.999C>T	NP_001136278.1:p.Ala333=
NM_005629.3:c.1344C>T	NP_005620.1:p.Ala448=
NM_005629.4:c.1344C>T MANE Select	NP_005620.1:p.Ala448=
NM_001142805.2:c.1314C>T	NP_001136277.1:p.Ala438=