Canonical Allele Identifier: CA519344870

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 3017517
• ClinVar RCV Id: RCV003874116
• dbSNP Id: rs1569539424
• gnomAD v4: X-153694180-C-A
• MyVariant Identifiers: chrX:g.152959635C>A (hg19)

Genomic Alleles

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

Transcript Alleles

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