Canonical Allele Identifier: CA415086671
Gene: SLC6A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694134T>C , CM000685.2:g.153694134T>C GRCh38
NC_000023.10:g.152959589T>C , CM000685.1:g.152959589T>C GRCh37
NC_000023.9:g.152612783T>C NCBI36
NG_012016.1:g.10838T>C
NG_012016.2:g.10838T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1259T>C MANE Select ENSP00000253122.5:p.Val420Ala
ENST00000253122.9:c.1259T>C ENSP00000253122.5:p.Val420Ala
ENST00000413787.1:c.258-70T>C ENSP00000400463.1:n.258-70T>C
ENST00000430077.6:c.914T>C ENSP00000403041.2:p.Val305Ala
ENST00000442457.1:c.313T>C
ENST00000457723.1:c.239-3T>C ENSP00000394742.1:n.239-3T>C
ENST00000485324.1:n.1404T>C
NM_001142805.1:c.1229T>C NP_001136277.1:p.Val410Ala
NM_001142806.1:c.914T>C NP_001136278.1:p.Val305Ala
NM_005629.3:c.1259T>C NP_005620.1:p.Val420Ala
NM_005629.4:c.1259T>C MANE Select NP_005620.1:p.Val420Ala
NM_001142805.2:c.1229T>C NP_001136277.1:p.Val410Ala