Canonical Allele Identifier: CA415086559

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693987-C-T
• MyVariant Identifiers: chrX:g.152959442C>T (hg19) ; chrX:g.153693987C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693987C>T , CM000685.2:g.153693987C>T	GRCh38
NC_000023.10:g.152959442C>T , CM000685.1:g.152959442C>T	GRCh37
NC_000023.9:g.152612636C>T	NCBI36
NG_012016.1:g.10691C>T
NG_012016.2:g.10691C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1224C>T MANE Select	ENSP00000253122.5:p.Phe408=
ENST00000253122.9:c.1224C>T	ENSP00000253122.5:p.Phe408=
ENST00000413787.1:c.258-217C>T	ENSP00000400463.1:n.258-217C>T
ENST00000430077.6:c.879C>T	ENSP00000403041.2:p.Phe293=
ENST00000442457.1:c.278C>T
ENST00000457723.1:c.208C>T	ENSP00000394742.1:p.His70Tyr
ENST00000485324.1:n.1257C>T
NM_001142805.1:c.1194C>T	NP_001136277.1:p.Phe398=
NM_001142806.1:c.879C>T	NP_001136278.1:p.Phe293=
NM_005629.3:c.1224C>T	NP_005620.1:p.Phe408=
NM_005629.4:c.1224C>T MANE Select	NP_005620.1:p.Phe408=
NM_001142805.2:c.1194C>T	NP_001136277.1:p.Phe398=