Canonical Allele Identifier: CA415086150
Gene: SLC6A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693920T>G , CM000685.2:g.153693920T>G GRCh38
NC_000023.10:g.152959375T>G , CM000685.1:g.152959375T>G GRCh37
NC_000023.9:g.152612569T>G NCBI36
NG_012016.1:g.10624T>G
NG_012016.2:g.10624T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1157T>G MANE Select ENSP00000253122.5:p.Phe386Cys
ENST00000253122.9:c.1157T>G ENSP00000253122.5:p.Phe386Cys
ENST00000413787.1:c.258-284T>G ENSP00000400463.1:n.258-284T>G
ENST00000430077.6:c.812T>G ENSP00000403041.2:p.Phe271Cys
ENST00000442457.1:c.211T>G
ENST00000457723.1:c.141T>G ENSP00000394742.1:p.Leu47=
ENST00000467402.1:n.256T>G
ENST00000485324.1:n.1190T>G
NM_001142805.1:c.1127T>G NP_001136277.1:p.Phe376Cys
NM_001142806.1:c.812T>G NP_001136278.1:p.Phe271Cys
NM_005629.3:c.1157T>G NP_005620.1:p.Phe386Cys
NM_005629.4:c.1157T>G MANE Select NP_005620.1:p.Phe386Cys
NM_001142805.2:c.1127T>G NP_001136277.1:p.Phe376Cys