Canonical Allele Identifier: CA415086948

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959680T>G (hg19) ; chrX:g.153694225T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694225T>G , CM000685.2:g.153694225T>G	GRCh38
NC_000023.10:g.152959680T>G , CM000685.1:g.152959680T>G	GRCh37
NC_000023.9:g.152612874T>G	NCBI36
NG_012016.1:g.10929T>G
NG_012016.2:g.10929T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1350T>G MANE Select	ENSP00000253122.5:p.Cys450Trp
ENST00000253122.9:c.1350T>G	ENSP00000253122.5:p.Cys450Trp
ENST00000413787.1:c.279T>G	ENSP00000400463.1:p.Cys93Trp
ENST00000430077.6:c.1005T>G	ENSP00000403041.2:p.Cys335Trp
ENST00000442457.1:c.404T>G
ENST00000485324.1:n.1495T>G
NM_001142805.1:c.1320T>G	NP_001136277.1:p.Cys440Trp
NM_001142806.1:c.1005T>G	NP_001136278.1:p.Cys335Trp
NM_005629.3:c.1350T>G	NP_005620.1:p.Cys450Trp
NM_005629.4:c.1350T>G MANE Select	NP_005620.1:p.Cys450Trp
NM_001142805.2:c.1320T>G	NP_001136277.1:p.Cys440Trp