Canonical Allele Identifier: CA519344936

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959698C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694243C>G , CM000685.2:g.153694243C>G	GRCh38
NC_000023.10:g.152959698C>G , CM000685.1:g.152959698C>G	GRCh37
NC_000023.9:g.152612892C>G	NCBI36
NG_012016.1:g.10947C>G
NG_012016.2:g.10947C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1368C>G MANE Select	ENSP00000253122.5:p.Val456=
ENST00000253122.9:c.1368C>G	ENSP00000253122.5:p.Val456=
ENST00000413787.1:c.297C>G	ENSP00000400463.1:p.Val99=
ENST00000430077.6:c.1023C>G	ENSP00000403041.2:p.Val341=
ENST00000442457.1:c.422C>G
ENST00000485324.1:n.1513C>G
NM_001142805.1:c.1338C>G	NP_001136277.1:p.Val446=
NM_001142806.1:c.1023C>G	NP_001136278.1:p.Val341=
NM_005629.3:c.1368C>G	NP_005620.1:p.Val456=
NM_005629.4:c.1368C>G MANE Select	NP_005620.1:p.Val456=
NM_001142805.2:c.1338C>G	NP_001136277.1:p.Val446=