Canonical Allele Identifier: CA415086363

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693954-A-T
• MyVariant Identifiers: chrX:g.152959409A>T (hg19) ; chrX:g.153693954A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693954A>T , CM000685.2:g.153693954A>T	GRCh38
NC_000023.10:g.152959409A>T , CM000685.1:g.152959409A>T	GRCh37
NC_000023.9:g.152612603A>T	NCBI36
NG_012016.1:g.10658A>T
NG_012016.2:g.10658A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1191A>T MANE Select	ENSP00000253122.5:p.Pro397=
ENST00000253122.9:c.1191A>T	ENSP00000253122.5:p.Pro397=
ENST00000413787.1:c.258-250A>T	ENSP00000400463.1:n.258-250A>T
ENST00000430077.6:c.846A>T	ENSP00000403041.2:p.Pro282=
ENST00000442457.1:c.245A>T
ENST00000457723.1:c.175A>T	ENSP00000394742.1:p.Ser59Cys
ENST00000467402.1:n.290A>T
ENST00000485324.1:n.1224A>T
NM_001142805.1:c.1161A>T	NP_001136277.1:p.Pro387=
NM_001142806.1:c.846A>T	NP_001136278.1:p.Pro282=
NM_005629.3:c.1191A>T	NP_005620.1:p.Pro397=
NM_005629.4:c.1191A>T MANE Select	NP_005620.1:p.Pro397=
NM_001142805.2:c.1161A>T	NP_001136277.1:p.Pro387=