Canonical Allele Identifier: CA415086618

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959462T>A (hg19) ; chrX:g.153694007T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694007T>A , CM000685.2:g.153694007T>A	GRCh38
NC_000023.10:g.152959462T>A , CM000685.1:g.152959462T>A	GRCh37
NC_000023.9:g.152612656T>A	NCBI36
NG_012016.1:g.10711T>A
NG_012016.2:g.10711T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1244T>A MANE Select	ENSP00000253122.5:p.Leu415His
ENST00000253122.9:c.1244T>A	ENSP00000253122.5:p.Leu415His
ENST00000413787.1:c.258-197T>A	ENSP00000400463.1:n.258-197T>A
ENST00000430077.6:c.899T>A	ENSP00000403041.2:p.Leu300His
ENST00000442457.1:c.298T>A
ENST00000457723.1:c.228T>A	ENSP00000394742.1:p.Ser76=
ENST00000485324.1:n.1277T>A
NM_001142805.1:c.1214T>A	NP_001136277.1:p.Leu405His
NM_001142806.1:c.899T>A	NP_001136278.1:p.Leu300His
NM_005629.3:c.1244T>A	NP_005620.1:p.Leu415His
NM_005629.4:c.1244T>A MANE Select	NP_005620.1:p.Leu415His
NM_001142805.2:c.1214T>A	NP_001136277.1:p.Leu405His