Canonical Allele Identifier: CA2466435981
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688905C= , CM000685.2:g.153688905C= GRCh38
NC_000023.10:g.152954360C= , CM000685.1:g.152954360C= GRCh37
NC_000023.9:g.152607554C= NCBI36
NG_012016.1:g.5609C=
NG_012016.2:g.5609C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.262+69C= (SLC6A8) MANE Select ENSP00000253122.5:n.262+69C=
ENST00000253122.9:c.262+69C= (SLC6A8) ENSP00000253122.5:n.262+69C=
ENST00000458354.5:c.-93G= (PNCK) ENSP00000401542.1:n.-93G=
ENST00000476466.1:n.114+69C= (SLC6A8)
NM_001142805.1:c.262+69C= (SLC6A8) NP_001136277.1:n.262+69C=
NM_005629.3:c.262+69C= (SLC6A8) NP_005620.1:n.262+69C=
NM_005629.4:c.262+69C= (SLC6A8) MANE Select NP_005620.1:n.262+69C=
NM_001142805.2:c.262+69C= (SLC6A8) NP_001136277.1:n.262+69C=
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