Canonical Allele Identifier: CA415086972
Gene: SLC6A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694230C>G , CM000685.2:g.153694230C>G GRCh38
NC_000023.10:g.152959685C>G , CM000685.1:g.152959685C>G GRCh37
NC_000023.9:g.152612879C>G NCBI36
NG_012016.1:g.10934C>G
NG_012016.2:g.10934C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1355C>G MANE Select ENSP00000253122.5:p.Ala452Gly
ENST00000253122.9:c.1355C>G ENSP00000253122.5:p.Ala452Gly
ENST00000413787.1:c.284C>G ENSP00000400463.1:p.Ala95Gly
ENST00000430077.6:c.1010C>G ENSP00000403041.2:p.Ala337Gly
ENST00000442457.1:c.409C>G
ENST00000485324.1:n.1500C>G
NM_001142805.1:c.1325C>G NP_001136277.1:p.Ala442Gly
NM_001142806.1:c.1010C>G NP_001136278.1:p.Ala337Gly
NM_005629.3:c.1355C>G NP_005620.1:p.Ala452Gly
NM_005629.4:c.1355C>G MANE Select NP_005620.1:p.Ala452Gly
NM_001142805.2:c.1325C>G NP_001136277.1:p.Ala442Gly