Canonical Allele Identifier: CA415086133

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959372C>T (hg19) ; chrX:g.153693917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693917C>T , CM000685.2:g.153693917C>T	GRCh38
NC_000023.10:g.152959372C>T , CM000685.1:g.152959372C>T	GRCh37
NC_000023.9:g.152612566C>T	NCBI36
NG_012016.1:g.10621C>T
NG_012016.2:g.10621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1154C>T MANE Select	ENSP00000253122.5:p.Ala385Val
ENST00000253122.9:c.1154C>T	ENSP00000253122.5:p.Ala385Val
ENST00000413787.1:c.258-287C>T	ENSP00000400463.1:n.258-287C>T
ENST00000430077.6:c.809C>T	ENSP00000403041.2:p.Ala270Val
ENST00000442457.1:c.208C>T
ENST00000457723.1:c.138C>T	ENSP00000394742.1:p.Gly46=
ENST00000467402.1:n.253C>T
ENST00000485324.1:n.1187C>T
NM_001142805.1:c.1124C>T	NP_001136277.1:p.Ala375Val
NM_001142806.1:c.809C>T	NP_001136278.1:p.Ala270Val
NM_005629.3:c.1154C>T	NP_005620.1:p.Ala385Val
NM_005629.4:c.1154C>T MANE Select	NP_005620.1:p.Ala385Val
NM_001142805.2:c.1124C>T	NP_001136277.1:p.Ala375Val