Canonical Allele Identifier: CA415078100
Gene: SLC6A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690504A>G , CM000685.2:g.153690504A>G GRCh38
NC_000023.10:g.152955959A>G , CM000685.1:g.152955959A>G GRCh37
NC_000023.9:g.152609153A>G NCBI36
NG_012016.1:g.7208A>G
NG_012016.2:g.7208A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.392A>G MANE Select ENSP00000253122.5:p.Lys131Arg
ENST00000675713.1:n.146A>G
ENST00000253122.9:c.392A>G ENSP00000253122.5:p.Lys131Arg
ENST00000430077.6:c.47A>G ENSP00000403041.2:p.Lys16Arg
ENST00000476466.1:n.244A>G
NM_001142805.1:c.392A>G NP_001136277.1:p.Lys131Arg
NM_001142806.1:c.47A>G NP_001136278.1:p.Lys16Arg
NM_005629.3:c.392A>G NP_005620.1:p.Lys131Arg
NM_005629.4:c.392A>G MANE Select NP_005620.1:p.Lys131Arg
NM_001142805.2:c.392A>G NP_001136277.1:p.Lys131Arg