Canonical Allele Identifier: CA415087060
Gene: SLC6A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694250C>G , CM000685.2:g.153694250C>G GRCh38
NC_000023.10:g.152959705C>G , CM000685.1:g.152959705C>G GRCh37
NC_000023.9:g.152612899C>G NCBI36
NG_012016.1:g.10954C>G
NG_012016.2:g.10954C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1375C>G MANE Select ENSP00000253122.5:p.Leu459Val
ENST00000253122.9:c.1375C>G ENSP00000253122.5:p.Leu459Val
ENST00000413787.1:c.304C>G ENSP00000400463.1:p.Leu102Val
ENST00000430077.6:c.1030C>G ENSP00000403041.2:p.Leu344Val
ENST00000442457.1:c.429C>G
ENST00000485324.1:n.1520C>G
NM_001142805.1:c.1345C>G NP_001136277.1:p.Leu449Val
NM_001142806.1:c.1030C>G NP_001136278.1:p.Leu344Val
NM_005629.3:c.1375C>G NP_005620.1:p.Leu459Val
NM_005629.4:c.1375C>G MANE Select NP_005620.1:p.Leu459Val
NM_001142805.2:c.1345C>G NP_001136277.1:p.Leu449Val