Canonical Allele Identifier: CA519185044

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152955936C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690481C>G , CM000685.2:g.153690481C>G	GRCh38
NC_000023.10:g.152955936C>G , CM000685.1:g.152955936C>G	GRCh37
NC_000023.9:g.152609130C>G	NCBI36
NG_012016.1:g.7185C>G
NG_012016.2:g.7185C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.369C>G MANE Select	ENSP00000253122.5:p.Val123=
ENST00000675713.1:n.123C>G
ENST00000253122.9:c.369C>G	ENSP00000253122.5:p.Val123=
ENST00000430077.6:c.24C>G	ENSP00000403041.2:p.Val8=
ENST00000476466.1:n.221C>G
NM_001142805.1:c.369C>G	NP_001136277.1:p.Val123=
NM_001142806.1:c.24C>G	NP_001136278.1:p.Val8=
NM_005629.3:c.369C>G	NP_005620.1:p.Val123=
NM_005629.4:c.369C>G MANE Select	NP_005620.1:p.Val123=
NM_001142805.2:c.369C>G	NP_001136277.1:p.Val123=