Canonical Allele Identifier: CA519184645

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 2107552
• ClinVar RCV Id: RCV003045654
• MyVariant Identifiers: chrX:g.152955843T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690388T>A , CM000685.2:g.153690388T>A	GRCh38
NC_000023.10:g.152955843T>A , CM000685.1:g.152955843T>A	GRCh37
NC_000023.9:g.152609037T>A	NCBI36
NG_012016.1:g.7092T>A
NG_012016.2:g.7092T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.276T>A MANE Select	ENSP00000253122.5:p.Ile92=
ENST00000675713.1:n.30T>A
ENST00000253122.9:c.276T>A	ENSP00000253122.5:p.Ile92=
ENST00000430077.6:c.-70T>A	ENSP00000403041.2:n.-70T>A
ENST00000476466.1:n.128T>A
NM_001142805.1:c.276T>A	NP_001136277.1:p.Ile92=
NM_001142806.1:c.-70T>A	NP_001136278.1:n.-70T>A
NM_005629.3:c.276T>A	NP_005620.1:p.Ile92=
NM_005629.4:c.276T>A MANE Select	NP_005620.1:p.Ile92=
NM_001142805.2:c.276T>A	NP_001136277.1:p.Ile92=