Canonical Allele Identifier: CA415086157

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693921-C-T
• MyVariant Identifiers: chrX:g.152959376C>T (hg19) ; chrX:g.153693921C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693921C>T , CM000685.2:g.153693921C>T	GRCh38
NC_000023.10:g.152959376C>T , CM000685.1:g.152959376C>T	GRCh37
NC_000023.9:g.152612570C>T	NCBI36
NG_012016.1:g.10625C>T
NG_012016.2:g.10625C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1158C>T MANE Select	ENSP00000253122.5:p.Phe386=
ENST00000253122.9:c.1158C>T	ENSP00000253122.5:p.Phe386=
ENST00000413787.1:c.258-283C>T	ENSP00000400463.1:n.258-283C>T
ENST00000430077.6:c.813C>T	ENSP00000403041.2:p.Phe271=
ENST00000442457.1:c.212C>T
ENST00000457723.1:c.142C>T	ENSP00000394742.1:p.His48Tyr
ENST00000467402.1:n.257C>T
ENST00000485324.1:n.1191C>T
NM_001142805.1:c.1128C>T	NP_001136277.1:p.Phe376=
NM_001142806.1:c.813C>T	NP_001136278.1:p.Phe271=
NM_005629.3:c.1158C>T	NP_005620.1:p.Phe386=
NM_005629.4:c.1158C>T MANE Select	NP_005620.1:p.Phe386=
NM_001142805.2:c.1128C>T	NP_001136277.1:p.Phe376=