Canonical Allele Identifier: CA415086872
Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1006805
dbSNP Id: rs2091474639

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694208A>T , CM000685.2:g.153694208A>T GRCh38
NC_000023.10:g.152959663A>T , CM000685.1:g.152959663A>T GRCh37
NC_000023.9:g.152612857A>T NCBI36
NG_012016.1:g.10912A>T
NG_012016.2:g.10912A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1333A>T MANE Select ENSP00000253122.5:p.Ile445Phe
ENST00000253122.9:c.1333A>T ENSP00000253122.5:p.Ile445Phe
ENST00000413787.1:c.262A>T ENSP00000400463.1:p.Ile88Phe
ENST00000430077.6:c.988A>T ENSP00000403041.2:p.Ile330Phe
ENST00000442457.1:c.387A>T
ENST00000485324.1:n.1478A>T
NM_001142805.1:c.1303A>T NP_001136277.1:p.Ile435Phe
NM_001142806.1:c.988A>T NP_001136278.1:p.Ile330Phe
NM_005629.3:c.1333A>T NP_005620.1:p.Ile445Phe
NM_005629.4:c.1333A>T MANE Select NP_005620.1:p.Ile445Phe
NM_001142805.2:c.1303A>T NP_001136277.1:p.Ile435Phe