Canonical Allele Identifier: CA415086244

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693935-G-T
• MyVariant Identifiers: chrX:g.152959390G>T (hg19) ; chrX:g.153693935G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693935G>T , CM000685.2:g.153693935G>T	GRCh38
NC_000023.10:g.152959390G>T , CM000685.1:g.152959390G>T	GRCh37
NC_000023.9:g.152612584G>T	NCBI36
NG_012016.1:g.10639G>T
NG_012016.2:g.10639G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1172G>T MANE Select	ENSP00000253122.5:p.Arg391Leu
ENST00000253122.9:c.1172G>T	ENSP00000253122.5:p.Arg391Leu
ENST00000413787.1:c.258-269G>T	ENSP00000400463.1:n.258-269G>T
ENST00000430077.6:c.827G>T	ENSP00000403041.2:p.Arg276Leu
ENST00000442457.1:c.226G>T
ENST00000457723.1:c.156G>T	ENSP00000394742.1:p.Ala52=
ENST00000467402.1:n.271G>T
ENST00000485324.1:n.1205G>T
NM_001142805.1:c.1142G>T	NP_001136277.1:p.Arg381Leu
NM_001142806.1:c.827G>T	NP_001136278.1:p.Arg276Leu
NM_005629.3:c.1172G>T	NP_005620.1:p.Arg391Leu
NM_005629.4:c.1172G>T MANE Select	NP_005620.1:p.Arg391Leu
NM_001142805.2:c.1142G>T	NP_001136277.1:p.Arg381Leu