Canonical Allele Identifier: CA415086704

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959603T>G (hg19) ; chrX:g.153694148T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694148T>G , CM000685.2:g.153694148T>G	GRCh38
NC_000023.10:g.152959603T>G , CM000685.1:g.152959603T>G	GRCh37
NC_000023.9:g.152612797T>G	NCBI36
NG_012016.1:g.10852T>G
NG_012016.2:g.10852T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1273T>G MANE Select	ENSP00000253122.5:p.Phe425Val
ENST00000253122.9:c.1273T>G	ENSP00000253122.5:p.Phe425Val
ENST00000413787.1:c.258-56T>G	ENSP00000400463.1:n.258-56T>G
ENST00000430077.6:c.928T>G	ENSP00000403041.2:p.Phe310Val
ENST00000442457.1:c.327T>G
ENST00000457723.1:c.250T>G	ENSP00000394742.1:p.Phe84Val
ENST00000485324.1:n.1418T>G
NM_001142805.1:c.1243T>G	NP_001136277.1:p.Phe415Val
NM_001142806.1:c.928T>G	NP_001136278.1:p.Phe310Val
NM_005629.3:c.1273T>G	NP_005620.1:p.Phe425Val
NM_005629.4:c.1273T>G MANE Select	NP_005620.1:p.Phe425Val
NM_001142805.2:c.1243T>G	NP_001136277.1:p.Phe415Val